ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)
Variation ID: 267576 Accession: VCV000267576.4
- Type and length
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Indel, 10 bp
- Location
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Cytogenetic: 17q21.31 17: 43063946-43063949 (GRCh38) [ NCBI UCSC ] 17: 41215963-41215966 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 6, 2016 Dec 11, 2022 Oct 2, 2015 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5077_5080delinsTTGATTCTGC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407571.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394500.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407581.1:c.5143_5146delGCTGinsTTGATTCTGC NP_001394510.1:p.Ala1715_Glu1716delinsLeuIleLeuGln inframe indel NM_001407582.1:c.5143_5146delGCTGinsTTGATTCTGC NP_001394511.1:p.Ala1715_Glu1716delinsLeuIleLeuGln inframe indel NM_001407583.1:c.5140_5143delGCTGinsTTGATTCTGC NP_001394512.1:p.Ala1714_Glu1715delinsLeuIleLeuGln inframe indel NM_001407585.1:c.5140_5143delGCTGinsTTGATTCTGC NP_001394514.1:p.Ala1714_Glu1715delinsLeuIleLeuGln inframe indel NM_001407587.1:c.5140_5143delGCTGinsTTGATTCTGC NP_001394516.1:p.Ala1714_Glu1715delinsLeuIleLeuGln inframe indel NM_001407590.1:c.5137_5140delGCTGinsTTGATTCTGC NP_001394519.1:p.Ala1713_Glu1714delinsLeuIleLeuGln inframe indel NM_001407591.1:c.5137_5140delGCTGinsTTGATTCTGC NP_001394520.1:p.Ala1713_Glu1714delinsLeuIleLeuGln inframe indel NM_001407593.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394522.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407594.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394523.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407596.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394525.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407597.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394526.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407598.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394527.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407602.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394531.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407603.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394532.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407605.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394534.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407610.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394539.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407611.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394540.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407612.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394541.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407613.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394542.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407614.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394543.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407615.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394544.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407616.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394545.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407617.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394546.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407618.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394547.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407619.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394548.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407620.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394549.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407621.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394550.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407622.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394551.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407623.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394552.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407624.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394553.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407625.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394554.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407626.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394555.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407627.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394556.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407628.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394557.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407629.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394558.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407630.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394559.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407631.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394560.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407632.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394561.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407633.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394562.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407634.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394563.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407635.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394564.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407636.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394565.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407637.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394566.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407638.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394567.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407639.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394568.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407640.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394569.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407641.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394570.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407642.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394571.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407644.1:c.5068_5071delGCTGinsTTGATTCTGC NP_001394573.1:p.Ala1690_Glu1691delinsLeuIleLeuGln inframe indel NM_001407645.1:c.5068_5071delGCTGinsTTGATTCTGC NP_001394574.1:p.Ala1690_Glu1691delinsLeuIleLeuGln inframe indel NM_001407646.1:c.5065_5068delGCTGinsTTGATTCTGC NP_001394575.1:p.Ala1689_Glu1690delinsLeuIleLeuGln inframe indel NM_001407647.1:c.5062_5065delGCTGinsTTGATTCTGC NP_001394576.1:p.Ala1688_Glu1689delinsLeuIleLeuGln inframe indel NM_001407648.1:c.5020_5023delGCTGinsTTGATTCTGC NP_001394577.1:p.Ala1674_Glu1675delinsLeuIleLeuGln inframe indel NM_001407649.1:c.5017_5020delGCTGinsTTGATTCTGC NP_001394578.1:p.Ala1673_Glu1674delinsLeuIleLeuGln inframe indel NM_001407653.1:c.4999_5002delGCTGinsTTGATTCTGC NP_001394582.1:p.Ala1667_Glu1668delinsLeuIleLeuGln inframe indel NM_001407654.1:c.4999_5002delGCTGinsTTGATTCTGC NP_001394583.1:p.Ala1667_Glu1668delinsLeuIleLeuGln inframe indel NM_001407655.1:c.4999_5002delGCTGinsTTGATTCTGC NP_001394584.1:p.Ala1667_Glu1668delinsLeuIleLeuGln inframe indel NM_001407656.1:c.4996_4999delGCTGinsTTGATTCTGC NP_001394585.1:p.Ala1666_Glu1667delinsLeuIleLeuGln inframe indel NM_001407657.1:c.4996_4999delGCTGinsTTGATTCTGC NP_001394586.1:p.Ala1666_Glu1667delinsLeuIleLeuGln inframe indel NM_001407658.1:c.4996_4999delGCTGinsTTGATTCTGC NP_001394587.1:p.Ala1666_Glu1667delinsLeuIleLeuGln inframe indel NM_001407659.1:c.4993_4996delGCTGinsTTGATTCTGC NP_001394588.1:p.Ala1665_Glu1666delinsLeuIleLeuGln inframe indel NM_001407660.1:c.4993_4996delGCTGinsTTGATTCTGC NP_001394589.1:p.Ala1665_Glu1666delinsLeuIleLeuGln inframe indel NM_001407661.1:c.4993_4996delGCTGinsTTGATTCTGC NP_001394590.1:p.Ala1665_Glu1666delinsLeuIleLeuGln inframe indel NM_001407662.1:c.4993_4996delGCTGinsTTGATTCTGC NP_001394591.1:p.Ala1665_Glu1666delinsLeuIleLeuGln inframe indel NM_001407663.1:c.4993_4996delGCTGinsTTGATTCTGC NP_001394592.1:p.Ala1665_Glu1666delinsLeuIleLeuGln inframe indel NM_001407664.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394593.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407665.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394594.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407666.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394595.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407667.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394596.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407668.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394597.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407669.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394598.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407670.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394599.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407671.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394600.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407672.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394601.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407673.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394602.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407674.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394603.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407675.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394604.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407676.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394605.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407677.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394606.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407678.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394607.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407679.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394608.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407680.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394609.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407681.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394610.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407682.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394611.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407683.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394612.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407684.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394613.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407685.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394614.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407686.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394615.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407687.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394616.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407688.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394617.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407689.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394618.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407690.1:c.4945_4948delGCTGinsTTGATTCTGC NP_001394619.1:p.Ala1649_Glu1650delinsLeuIleLeuGln inframe indel NM_001407691.1:c.4945_4948delGCTGinsTTGATTCTGC NP_001394620.1:p.Ala1649_Glu1650delinsLeuIleLeuGln inframe indel NM_001407692.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394621.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407694.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394623.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407695.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394624.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407696.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394625.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407697.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394626.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407698.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394627.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407724.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394653.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407725.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394654.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407726.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394655.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407727.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394656.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407728.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394657.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407729.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394658.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407730.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394659.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407731.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394660.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407732.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394661.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407733.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394662.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407734.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394663.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407735.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394664.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407736.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394665.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407737.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394666.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407738.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394667.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407739.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394668.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407740.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394669.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407741.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394670.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407742.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394671.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407743.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394672.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407744.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394673.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407745.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394674.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407746.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394675.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407747.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394676.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407748.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394677.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407749.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394678.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407750.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394679.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407751.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394680.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407752.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394681.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407838.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394767.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407839.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394768.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407841.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394770.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407842.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394771.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407843.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394772.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407844.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394773.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407845.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394774.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407846.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394775.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407847.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394776.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407848.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394777.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407849.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394778.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407850.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394779.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407851.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394780.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407852.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394781.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407853.1:c.4930_4933delGCTGinsTTGATTCTGC NP_001394782.1:p.Ala1644_Glu1645delinsLeuIleLeuGln inframe indel NM_001407854.1:c.5077_5080delGCTGinsTTGATTCTGC NP_001394783.1:p.Ala1693_Glu1694delinsLeuIleLeuGln inframe indel NM_001407858.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394787.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407859.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394788.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407860.1:c.5074_5077delGCTGinsTTGATTCTGC NP_001394789.1:p.Ala1692_Glu1693delinsLeuIleLeuGln inframe indel NM_001407861.1:c.5071_5074delGCTGinsTTGATTCTGC NP_001394790.1:p.Ala1691_Glu1692delinsLeuIleLeuGln inframe indel NM_001407862.1:c.4876_4879delGCTGinsTTGATTCTGC NP_001394791.1:p.Ala1626_Glu1627delinsLeuIleLeuGln inframe indel NM_001407874.1:c.4870_4873delGCTGinsTTGATTCTGC NP_001394803.1:p.Ala1624_Glu1625delinsLeuIleLeuGln inframe indel NM_001407875.1:c.4870_4873delGCTGinsTTGATTCTGC NP_001394804.1:p.Ala1624_Glu1625delinsLeuIleLeuGln inframe indel NM_001407879.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394808.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407881.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394810.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407882.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394811.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407884.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394813.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407885.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394814.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407886.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394815.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407887.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394816.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407889.1:c.4867_4870delGCTGinsTTGATTCTGC NP_001394818.1:p.Ala1623_Glu1624delinsLeuIleLeuGln inframe indel NM_001407894.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394823.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407895.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394824.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407896.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394825.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407897.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394826.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407898.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394827.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407899.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394828.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407900.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394829.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407902.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394831.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407904.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394833.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407906.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394835.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407907.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394836.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407908.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394837.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407909.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394838.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407910.1:c.4864_4867delGCTGinsTTGATTCTGC NP_001394839.1:p.Ala1622_Glu1623delinsLeuIleLeuGln inframe indel NM_001407915.1:c.4861_4864delGCTGinsTTGATTCTGC NP_001394844.1:p.Ala1621_Glu1622delinsLeuIleLeuGln inframe indel NM_001407916.1:c.4861_4864delGCTGinsTTGATTCTGC NP_001394845.1:p.Ala1621_Glu1622delinsLeuIleLeuGln inframe indel NM_001407917.1:c.4861_4864delGCTGinsTTGATTCTGC NP_001394846.1:p.Ala1621_Glu1622delinsLeuIleLeuGln inframe indel NM_001407918.1:c.4861_4864delGCTGinsTTGATTCTGC NP_001394847.1:p.Ala1621_Glu1622delinsLeuIleLeuGln inframe indel NM_001407919.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394848.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407920.1:c.4813_4816delGCTGinsTTGATTCTGC NP_001394849.1:p.Ala1605_Glu1606delinsLeuIleLeuGln inframe indel NM_001407921.1:c.4813_4816delGCTGinsTTGATTCTGC NP_001394850.1:p.Ala1605_Glu1606delinsLeuIleLeuGln inframe indel NM_001407922.1:c.4813_4816delGCTGinsTTGATTCTGC NP_001394851.1:p.Ala1605_Glu1606delinsLeuIleLeuGln inframe indel NM_001407923.1:c.4813_4816delGCTGinsTTGATTCTGC NP_001394852.1:p.Ala1605_Glu1606delinsLeuIleLeuGln inframe indel NM_001407924.1:c.4813_4816delGCTGinsTTGATTCTGC NP_001394853.1:p.Ala1605_Glu1606delinsLeuIleLeuGln inframe indel NM_001407925.1:c.4813_4816delGCTGinsTTGATTCTGC NP_001394854.1:p.Ala1605_Glu1606delinsLeuIleLeuGln inframe indel NM_001407926.1:c.4813_4816delGCTGinsTTGATTCTGC NP_001394855.1:p.Ala1605_Glu1606delinsLeuIleLeuGln inframe indel NM_001407927.1:c.4810_4813delGCTGinsTTGATTCTGC NP_001394856.1:p.Ala1604_Glu1605delinsLeuIleLeuGln inframe indel NM_001407928.1:c.4810_4813delGCTGinsTTGATTCTGC NP_001394857.1:p.Ala1604_Glu1605delinsLeuIleLeuGln inframe indel NM_001407929.1:c.4810_4813delGCTGinsTTGATTCTGC NP_001394858.1:p.Ala1604_Glu1605delinsLeuIleLeuGln inframe indel NM_001407930.1:c.4810_4813delGCTGinsTTGATTCTGC NP_001394859.1:p.Ala1604_Glu1605delinsLeuIleLeuGln inframe indel NM_001407931.1:c.4810_4813delGCTGinsTTGATTCTGC NP_001394860.1:p.Ala1604_Glu1605delinsLeuIleLeuGln inframe indel NM_001407932.1:c.4810_4813delGCTGinsTTGATTCTGC NP_001394861.1:p.Ala1604_Glu1605delinsLeuIleLeuGln inframe indel NM_001407933.1:c.4810_4813delGCTGinsTTGATTCTGC NP_001394862.1:p.Ala1604_Glu1605delinsLeuIleLeuGln inframe indel NM_001407934.1:c.4807_4810delGCTGinsTTGATTCTGC NP_001394863.1:p.Ala1603_Glu1604delinsLeuIleLeuGln inframe indel NM_001407935.1:c.4807_4810delGCTGinsTTGATTCTGC NP_001394864.1:p.Ala1603_Glu1604delinsLeuIleLeuGln inframe indel NM_001407936.1:c.4807_4810delGCTGinsTTGATTCTGC NP_001394865.1:p.Ala1603_Glu1604delinsLeuIleLeuGln inframe indel NM_001407937.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394866.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407938.1:c.4954_4957delGCTGinsTTGATTCTGC NP_001394867.1:p.Ala1652_Glu1653delinsLeuIleLeuGln inframe indel NM_001407939.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394868.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407940.1:c.4951_4954delGCTGinsTTGATTCTGC NP_001394869.1:p.Ala1651_Glu1652delinsLeuIleLeuGln inframe indel NM_001407941.1:c.4948_4951delGCTGinsTTGATTCTGC NP_001394870.1:p.Ala1650_Glu1651delinsLeuIleLeuGln inframe indel NM_001407942.1:c.4936_4939delGCTGinsTTGATTCTGC NP_001394871.1:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_001407943.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394872.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407944.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394873.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407945.1:c.4933_4936delGCTGinsTTGATTCTGC NP_001394874.1:p.Ala1645_Glu1646delinsLeuIleLeuGln inframe indel NM_001407946.1:c.4744_4747delGCTGinsTTGATTCTGC NP_001394875.1:p.Ala1582_Glu1583delinsLeuIleLeuGln inframe indel NM_001407947.1:c.4744_4747delGCTGinsTTGATTCTGC NP_001394876.1:p.Ala1582_Glu1583delinsLeuIleLeuGln inframe indel NM_001407948.1:c.4744_4747delGCTGinsTTGATTCTGC NP_001394877.1:p.Ala1582_Glu1583delinsLeuIleLeuGln inframe indel NM_001407949.1:c.4744_4747delGCTGinsTTGATTCTGC NP_001394878.1:p.Ala1582_Glu1583delinsLeuIleLeuGln inframe indel NM_001407950.1:c.4741_4744delGCTGinsTTGATTCTGC NP_001394879.1:p.Ala1581_Glu1582delinsLeuIleLeuGln inframe indel NM_001407951.1:c.4741_4744delGCTGinsTTGATTCTGC NP_001394880.1:p.Ala1581_Glu1582delinsLeuIleLeuGln inframe indel NM_001407952.1:c.4741_4744delGCTGinsTTGATTCTGC NP_001394881.1:p.Ala1581_Glu1582delinsLeuIleLeuGln inframe indel NM_001407953.1:c.4741_4744delGCTGinsTTGATTCTGC NP_001394882.1:p.Ala1581_Glu1582delinsLeuIleLeuGln inframe indel NM_001407954.1:c.4741_4744delGCTGinsTTGATTCTGC NP_001394883.1:p.Ala1581_Glu1582delinsLeuIleLeuGln inframe indel NM_001407955.1:c.4741_4744delGCTGinsTTGATTCTGC NP_001394884.1:p.Ala1581_Glu1582delinsLeuIleLeuGln inframe indel NM_001407956.1:c.4738_4741delGCTGinsTTGATTCTGC NP_001394885.1:p.Ala1580_Glu1581delinsLeuIleLeuGln inframe indel NM_001407957.1:c.4738_4741delGCTGinsTTGATTCTGC NP_001394886.1:p.Ala1580_Glu1581delinsLeuIleLeuGln inframe indel NM_001407958.1:c.4738_4741delGCTGinsTTGATTCTGC NP_001394887.1:p.Ala1580_Glu1581delinsLeuIleLeuGln inframe indel NM_001407959.1:c.4696_4699delGCTGinsTTGATTCTGC NP_001394888.1:p.Ala1566_Glu1567delinsLeuIleLeuGln inframe indel NM_001407960.1:c.4693_4696delGCTGinsTTGATTCTGC NP_001394889.1:p.Ala1565_Glu1566delinsLeuIleLeuGln inframe indel NM_001407962.1:c.4693_4696delGCTGinsTTGATTCTGC NP_001394891.1:p.Ala1565_Glu1566delinsLeuIleLeuGln inframe indel NM_001407963.1:c.4690_4693delGCTGinsTTGATTCTGC NP_001394892.1:p.Ala1564_Glu1565delinsLeuIleLeuGln inframe indel NM_001407964.1:c.4615_4618delGCTGinsTTGATTCTGC NP_001394893.1:p.Ala1539_Glu1540delinsLeuIleLeuGln inframe indel NM_001407965.1:c.4570_4573delGCTGinsTTGATTCTGC NP_001394894.1:p.Ala1524_Glu1525delinsLeuIleLeuGln inframe indel NM_001407966.1:c.4189_4192delGCTGinsTTGATTCTGC NP_001394895.1:p.Ala1397_Glu1398delinsLeuIleLeuGln inframe indel NM_001407967.1:c.4186_4189delGCTGinsTTGATTCTGC NP_001394896.1:p.Ala1396_Glu1397delinsLeuIleLeuGln inframe indel NM_001407968.1:c.2473_2476delGCTGinsTTGATTCTGC NP_001394897.1:p.Ala825_Glu826delinsLeuIleLeuGln inframe indel NM_001407969.1:c.2470_2473delGCTGinsTTGATTCTGC NP_001394898.1:p.Ala824_Glu825delinsLeuIleLeuGln inframe indel NM_001407970.1:c.1834_1837delGCTGinsTTGATTCTGC NP_001394899.1:p.Ala612_Glu613delinsLeuIleLeuGln inframe indel NM_001407971.1:c.1834_1837delGCTGinsTTGATTCTGC NP_001394900.1:p.Ala612_Glu613delinsLeuIleLeuGln inframe indel NM_001407972.1:c.1831_1834delGCTGinsTTGATTCTGC NP_001394901.1:p.Ala611_Glu612delinsLeuIleLeuGln inframe indel NM_001407973.1:c.1768_1771delGCTGinsTTGATTCTGC NP_001394902.1:p.Ala590_Glu591delinsLeuIleLeuGln inframe indel NM_001407974.1:c.1768_1771delGCTGinsTTGATTCTGC NP_001394903.1:p.Ala590_Glu591delinsLeuIleLeuGln inframe indel NM_001407975.1:c.1768_1771delGCTGinsTTGATTCTGC NP_001394904.1:p.Ala590_Glu591delinsLeuIleLeuGln inframe indel NM_001407976.1:c.1768_1771delGCTGinsTTGATTCTGC NP_001394905.1:p.Ala590_Glu591delinsLeuIleLeuGln inframe indel NM_001407977.1:c.1768_1771delGCTGinsTTGATTCTGC NP_001394906.1:p.Ala590_Glu591delinsLeuIleLeuGln inframe indel NM_001407978.1:c.1768_1771delGCTGinsTTGATTCTGC NP_001394907.1:p.Ala590_Glu591delinsLeuIleLeuGln inframe indel NM_001407979.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394908.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407980.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394909.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407981.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394910.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407982.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394911.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407983.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394912.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407984.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394913.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407985.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394914.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407986.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394915.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407990.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394919.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407991.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394920.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407992.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394921.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001407993.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001394922.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001408392.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395321.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408396.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395325.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408397.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395326.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408398.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395327.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408399.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395328.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408400.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395329.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408401.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395330.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408402.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395331.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408403.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395332.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408404.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395333.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408406.1:c.1759_1762delGCTGinsTTGATTCTGC NP_001395335.1:p.Ala587_Glu588delinsLeuIleLeuGln inframe indel NM_001408407.1:c.1759_1762delGCTGinsTTGATTCTGC NP_001395336.1:p.Ala587_Glu588delinsLeuIleLeuGln inframe indel NM_001408408.1:c.1759_1762delGCTGinsTTGATTCTGC NP_001395337.1:p.Ala587_Glu588delinsLeuIleLeuGln inframe indel NM_001408409.1:c.1756_1759delGCTGinsTTGATTCTGC NP_001395338.1:p.Ala586_Glu587delinsLeuIleLeuGln inframe indel NM_001408410.1:c.1693_1696delGCTGinsTTGATTCTGC NP_001395339.1:p.Ala565_Glu566delinsLeuIleLeuGln inframe indel NM_001408411.1:c.1690_1693delGCTGinsTTGATTCTGC NP_001395340.1:p.Ala564_Glu565delinsLeuIleLeuGln inframe indel NM_001408412.1:c.1687_1690delGCTGinsTTGATTCTGC NP_001395341.1:p.Ala563_Glu564delinsLeuIleLeuGln inframe indel NM_001408413.1:c.1687_1690delGCTGinsTTGATTCTGC NP_001395342.1:p.Ala563_Glu564delinsLeuIleLeuGln inframe indel NM_001408414.1:c.1687_1690delGCTGinsTTGATTCTGC NP_001395343.1:p.Ala563_Glu564delinsLeuIleLeuGln inframe indel NM_001408415.1:c.1687_1690delGCTGinsTTGATTCTGC NP_001395344.1:p.Ala563_Glu564delinsLeuIleLeuGln inframe indel NM_001408416.1:c.1687_1690delGCTGinsTTGATTCTGC NP_001395345.1:p.Ala563_Glu564delinsLeuIleLeuGln inframe indel NM_001408418.1:c.1651_1654delGCTGinsTTGATTCTGC NP_001395347.1:p.Ala551_Glu552delinsLeuIleLeuGln inframe indel NM_001408419.1:c.1651_1654delGCTGinsTTGATTCTGC NP_001395348.1:p.Ala551_Glu552delinsLeuIleLeuGln inframe indel NM_001408420.1:c.1651_1654delGCTGinsTTGATTCTGC NP_001395349.1:p.Ala551_Glu552delinsLeuIleLeuGln inframe indel NM_001408421.1:c.1648_1651delGCTGinsTTGATTCTGC NP_001395350.1:p.Ala550_Glu551delinsLeuIleLeuGln inframe indel NM_001408422.1:c.1648_1651delGCTGinsTTGATTCTGC NP_001395351.1:p.Ala550_Glu551delinsLeuIleLeuGln inframe indel NM_001408423.1:c.1648_1651delGCTGinsTTGATTCTGC NP_001395352.1:p.Ala550_Glu551delinsLeuIleLeuGln inframe indel NM_001408424.1:c.1648_1651delGCTGinsTTGATTCTGC NP_001395353.1:p.Ala550_Glu551delinsLeuIleLeuGln inframe indel NM_001408425.1:c.1645_1648delGCTGinsTTGATTCTGC NP_001395354.1:p.Ala549_Glu550delinsLeuIleLeuGln inframe indel NM_001408426.1:c.1645_1648delGCTGinsTTGATTCTGC NP_001395355.1:p.Ala549_Glu550delinsLeuIleLeuGln inframe indel NM_001408427.1:c.1645_1648delGCTGinsTTGATTCTGC NP_001395356.1:p.Ala549_Glu550delinsLeuIleLeuGln inframe indel NM_001408428.1:c.1645_1648delGCTGinsTTGATTCTGC NP_001395357.1:p.Ala549_Glu550delinsLeuIleLeuGln inframe indel NM_001408429.1:c.1645_1648delGCTGinsTTGATTCTGC NP_001395358.1:p.Ala549_Glu550delinsLeuIleLeuGln inframe indel NM_001408430.1:c.1645_1648delGCTGinsTTGATTCTGC NP_001395359.1:p.Ala549_Glu550delinsLeuIleLeuGln inframe indel NM_001408431.1:c.1645_1648delGCTGinsTTGATTCTGC NP_001395360.1:p.Ala549_Glu550delinsLeuIleLeuGln inframe indel NM_001408432.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395361.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408433.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395362.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408434.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395363.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408435.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395364.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408436.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395365.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408437.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395366.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408438.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395367.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408439.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395368.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408440.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395369.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408441.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395370.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408442.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395371.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408443.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395372.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408444.1:c.1642_1645delGCTGinsTTGATTCTGC NP_001395373.1:p.Ala548_Glu549delinsLeuIleLeuGln inframe indel NM_001408445.1:c.1639_1642delGCTGinsTTGATTCTGC NP_001395374.1:p.Ala547_Glu548delinsLeuIleLeuGln inframe indel NM_001408446.1:c.1639_1642delGCTGinsTTGATTCTGC NP_001395375.1:p.Ala547_Glu548delinsLeuIleLeuGln inframe indel NM_001408447.1:c.1639_1642delGCTGinsTTGATTCTGC NP_001395376.1:p.Ala547_Glu548delinsLeuIleLeuGln inframe indel NM_001408448.1:c.1639_1642delGCTGinsTTGATTCTGC NP_001395377.1:p.Ala547_Glu548delinsLeuIleLeuGln inframe indel NM_001408450.1:c.1639_1642delGCTGinsTTGATTCTGC NP_001395379.1:p.Ala547_Glu548delinsLeuIleLeuGln inframe indel NM_001408451.1:c.1633_1636delGCTGinsTTGATTCTGC NP_001395380.1:p.Ala545_Glu546delinsLeuIleLeuGln inframe indel NM_001408452.1:c.1627_1630delGCTGinsTTGATTCTGC NP_001395381.1:p.Ala543_Glu544delinsLeuIleLeuGln inframe indel NM_001408453.1:c.1627_1630delGCTGinsTTGATTCTGC NP_001395382.1:p.Ala543_Glu544delinsLeuIleLeuGln inframe indel NM_001408454.1:c.1627_1630delGCTGinsTTGATTCTGC NP_001395383.1:p.Ala543_Glu544delinsLeuIleLeuGln inframe indel NM_001408455.1:c.1627_1630delGCTGinsTTGATTCTGC NP_001395384.1:p.Ala543_Glu544delinsLeuIleLeuGln inframe indel NM_001408456.1:c.1627_1630delGCTGinsTTGATTCTGC NP_001395385.1:p.Ala543_Glu544delinsLeuIleLeuGln inframe indel NM_001408457.1:c.1627_1630delGCTGinsTTGATTCTGC NP_001395386.1:p.Ala543_Glu544delinsLeuIleLeuGln inframe indel NM_001408458.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395387.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408459.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395388.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408460.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395389.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408461.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395390.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408462.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395391.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408463.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395392.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408464.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395393.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408465.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395394.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408466.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395395.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408467.1:c.1624_1627delGCTGinsTTGATTCTGC NP_001395396.1:p.Ala542_Glu543delinsLeuIleLeuGln inframe indel NM_001408468.1:c.1621_1624delGCTGinsTTGATTCTGC NP_001395397.1:p.Ala541_Glu542delinsLeuIleLeuGln inframe indel NM_001408469.1:c.1621_1624delGCTGinsTTGATTCTGC NP_001395398.1:p.Ala541_Glu542delinsLeuIleLeuGln inframe indel NM_001408470.1:c.1621_1624delGCTGinsTTGATTCTGC NP_001395399.1:p.Ala541_Glu542delinsLeuIleLeuGln inframe indel NM_001408472.1:c.1765_1768delGCTGinsTTGATTCTGC NP_001395401.1:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_001408473.1:c.1762_1765delGCTGinsTTGATTCTGC NP_001395402.1:p.Ala588_Glu589delinsLeuIleLeuGln inframe indel NM_001408474.1:c.1567_1570delGCTGinsTTGATTCTGC NP_001395403.1:p.Ala523_Glu524delinsLeuIleLeuGln inframe indel NM_001408475.1:c.1564_1567delGCTGinsTTGATTCTGC NP_001395404.1:p.Ala522_Glu523delinsLeuIleLeuGln inframe indel NM_001408476.1:c.1564_1567delGCTGinsTTGATTCTGC NP_001395405.1:p.Ala522_Glu523delinsLeuIleLeuGln inframe indel NM_001408478.1:c.1558_1561delGCTGinsTTGATTCTGC NP_001395407.1:p.Ala520_Glu521delinsLeuIleLeuGln inframe indel NM_001408479.1:c.1558_1561delGCTGinsTTGATTCTGC NP_001395408.1:p.Ala520_Glu521delinsLeuIleLeuGln inframe indel NM_001408480.1:c.1558_1561delGCTGinsTTGATTCTGC NP_001395409.1:p.Ala520_Glu521delinsLeuIleLeuGln inframe indel NM_001408481.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395410.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408482.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395411.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408483.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395412.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408484.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395413.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408485.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395414.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408489.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395418.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408490.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395419.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408491.1:c.1555_1558delGCTGinsTTGATTCTGC NP_001395420.1:p.Ala519_Glu520delinsLeuIleLeuGln inframe indel NM_001408492.1:c.1552_1555delGCTGinsTTGATTCTGC NP_001395421.1:p.Ala518_Glu519delinsLeuIleLeuGln inframe indel NM_001408493.1:c.1552_1555delGCTGinsTTGATTCTGC NP_001395422.1:p.Ala518_Glu519delinsLeuIleLeuGln inframe indel NM_001408494.1:c.1528_1531delGCTGinsTTGATTCTGC NP_001395423.1:p.Ala510_Glu511delinsLeuIleLeuGln inframe indel NM_001408495.1:c.1522_1525delGCTGinsTTGATTCTGC NP_001395424.1:p.Ala508_Glu509delinsLeuIleLeuGln inframe indel NM_001408496.1:c.1504_1507delGCTGinsTTGATTCTGC NP_001395425.1:p.Ala502_Glu503delinsLeuIleLeuGln inframe indel NM_001408497.1:c.1504_1507delGCTGinsTTGATTCTGC NP_001395426.1:p.Ala502_Glu503delinsLeuIleLeuGln inframe indel NM_001408498.1:c.1504_1507delGCTGinsTTGATTCTGC NP_001395427.1:p.Ala502_Glu503delinsLeuIleLeuGln inframe indel NM_001408499.1:c.1504_1507delGCTGinsTTGATTCTGC NP_001395428.1:p.Ala502_Glu503delinsLeuIleLeuGln inframe indel NM_001408500.1:c.1504_1507delGCTGinsTTGATTCTGC NP_001395429.1:p.Ala502_Glu503delinsLeuIleLeuGln inframe indel NM_001408501.1:c.1504_1507delGCTGinsTTGATTCTGC NP_001395430.1:p.Ala502_Glu503delinsLeuIleLeuGln inframe indel NM_001408502.1:c.1501_1504delGCTGinsTTGATTCTGC NP_001395431.1:p.Ala501_Glu502delinsLeuIleLeuGln inframe indel NM_001408503.1:c.1501_1504delGCTGinsTTGATTCTGC NP_001395432.1:p.Ala501_Glu502delinsLeuIleLeuGln inframe indel NM_001408504.1:c.1501_1504delGCTGinsTTGATTCTGC NP_001395433.1:p.Ala501_Glu502delinsLeuIleLeuGln inframe indel NM_001408505.1:c.1498_1501delGCTGinsTTGATTCTGC NP_001395434.1:p.Ala500_Glu501delinsLeuIleLeuGln inframe indel NM_001408506.1:c.1441_1444delGCTGinsTTGATTCTGC NP_001395435.1:p.Ala481_Glu482delinsLeuIleLeuGln inframe indel NM_001408507.1:c.1438_1441delGCTGinsTTGATTCTGC NP_001395436.1:p.Ala480_Glu481delinsLeuIleLeuGln inframe indel NM_001408508.1:c.1429_1432delGCTGinsTTGATTCTGC NP_001395437.1:p.Ala477_Glu478delinsLeuIleLeuGln inframe indel NM_001408509.1:c.1426_1429delGCTGinsTTGATTCTGC NP_001395438.1:p.Ala476_Glu477delinsLeuIleLeuGln inframe indel NM_001408510.1:c.1387_1390delGCTGinsTTGATTCTGC NP_001395439.1:p.Ala463_Glu464delinsLeuIleLeuGln inframe indel NM_001408511.1:c.1384_1387delGCTGinsTTGATTCTGC NP_001395440.1:p.Ala462_Glu463delinsLeuIleLeuGln inframe indel NM_001408512.1:c.1264_1267delGCTGinsTTGATTCTGC NP_001395441.1:p.Ala422_Glu423delinsLeuIleLeuGln inframe indel NM_001408513.1:c.1237_1240delGCTGinsTTGATTCTGC NP_001395442.1:p.Ala413_Glu414delinsLeuIleLeuGln inframe indel NM_001408514.1:c.841_844delGCTGinsTTGATTCTGC NP_001395443.1:p.Ala281_Glu282delinsLeuIleLeuGln inframe indel NM_007297.4:c.4936_4939delinsTTGATTCTGC NP_009228.2:p.Ala1646_Glu1647delinsLeuIleLeuGln inframe indel NM_007298.4:c.1765_1768delGCTGinsTTGATTCTGC NP_009229.2:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_007299.4:c.1765_1768delinsTTGATTCTGC NP_009230.2:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NM_007300.4:c.5140_5143delinsTTGATTCTGC NP_009231.2:p.Ala1714_Glu1715delinsLeuIleLeuGln inframe indel NM_007304.2:c.1765_1768delGCTGinsTTGATTCTGC NP_009235.2:p.Ala589_Glu590delinsLeuIleLeuGln inframe indel NR_027676.2:n.5254_5257delinsTTGATTCTGC non-coding transcript variant NC_000017.11:g.43063946_43063949delinsGCAGAATCAA NC_000017.10:g.41215963_41215966delinsGCAGAATCAA NG_005905.2:g.154035_154038delinsTTGATTCTGC LRG_292:g.154035_154038delinsTTGATTCTGC LRG_292t1:c.5077_5080delGCTGinsTTGATTCTGC LRG_292p1:p.Ala1693_Glu1694delinsLeuIleLeuGln - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063945:CAGC:GCAGAATCAA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Oct 2, 2015 | RCV000258170.4 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326149.4
First in ClinVar: Nov 06, 2016 Last updated: Dec 11, 2022 |
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Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs397509224 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.