ClinVar

NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42403000 - 42403001 (on Assembly GRCh38)
• Chr15: 42695198 - 42695199 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)

HGVS:

• NC_000015.10:g.42403000_42403001del
• NG_008660.1:g.59898_59899del
• NM_000070.3:c.1743_1744delMANE SELECT
• NM_024344.2:c.1743_1744del
• NM_173087.2:c.1599_1600del
• NM_173088.2:c.207_208del
• NP_000061.1:p.Glu582fs
• NP_077320.1:p.Glu582fs
• NP_775110.1:p.Glu534fs
• NP_775111.1:p.Glu70fs
• LRG_849t1:c.1743_1744del
• LRG_849:g.59898_59899del
• LRG_849p1:p.Glu582fs
• NC_000015.9:g.42695198_42695199del
• NM_000070.2:c.1743_1744delTG

This HGVS expression did not pass validation

Protein change:

E534fs

Links:

dbSNP: rs886042573

NCBI 1000 Genomes Browser:

rs886042573

Molecular consequence:

• NM_000070.3:c.1743_1744del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_024344.2:c.1743_1744del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_173087.2:c.1599_1600del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_173088.2:c.207_208del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2