ClinVar

NM_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla)

Genes:

BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23321471 - 23321472 (on Assembly GRCh38)
• Chr14: 23790680 - 23790681 (on Assembly GRCh37)

Preferred name:

NM_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla)

HGVS:

• NC_000014.9:g.23321472GGC[12]
• NG_008239.1:g.6285GGC[12]
• NG_128768.1:g.363GGC[12]
• NM_001199864.3:c.433-709GGC[12]
• NM_001360551.3:c.3GGC[12]
• NM_001387340.1:c.550-709GGC[12]
• NM_001387341.1:c.529-709GGC[12]
• NM_001387342.1:c.529-709GGC[12]
• NM_001387343.1:c.529-709GGC[12]
• NM_001387344.1:c.529-709GGC[12]
• NM_001387345.1:c.433-709GGC[12]
• NM_001387346.1:c.433-709GGC[12]
• NM_004643.4:c.3GGC[12]MANE SELECT
• NP_001347480.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
• NP_004634.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
• NC_000014.8:g.23790681GGC[12]
• NM_004643.4:c.2_3insGGCGGCGGCGGCGGCMANE SELECT

This HGVS expression did not pass validation

Links:

dbSNP: rs193922941

NCBI 1000 Genomes Browser:

rs193922941

Molecular consequence:

• NM_001360551.3:c.3GGC[12] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_004643.4:c.3GGC[12] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001360551.3:c.3GGC[12] - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_004643.4:c.3GGC[12] - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001199864.3:c.433-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387340.1:c.550-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387341.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387342.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387343.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387344.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387345.1:c.433-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387346.1:c.433-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1