Canonical Allele Identifier: CA712902436

Gene: CAPN3

Linked Data

• dbSNP Id: rs1311074595
• gnomAD v3: 15-42401483-C-CG
• gnomAD v4: 15-42401483-C-CG
• MyVariant Identifiers: chr15:g.42693681_42693682insG (hg19) ; chr15:g.42401483_42401484insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401483_42401484insG , CM000677.2:g.42401483_42401484insG	GRCh38
NC_000015.9:g.42693681_42693682insG , CM000677.1:g.42693681_42693682insG	GRCh37
NC_000015.8:g.40480973_40480974insG	NCBI36
NG_008660.1:g.58381_58382insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-158_1211-157insG	ENSP00000183936.4:n.1211-158_1211-157insG
ENST00000357568.8:c.1355-158_1355-157insG	ENSP00000350181.3:n.1355-158_1355-157insG
ENST00000397163.8:c.1355-158_1355-157insG MANE Select	ENSP00000380349.3:n.1355-158_1355-157insG
ENST00000466369.5:n.1864-158_1864-157insG
ENST00000483208.5:n.1586-158_1586-157insG
ENST00000495723.1:n.1586-158_1586-157insG
ENST00000549793.5:n.1586-158_1586-157insG
ENST00000638141.2:n.1226-158_1226-157insG
ENST00000673705.1:c.309+1831_309+1832insG	ENSP00000501021.1:n.309+1831_309+1832insG
ENST00000318023.11:c.1211-158_1211-157insG	ENSP00000326281.8:n.1211-158_1211-157insG
ENST00000349748.7:c.1211-158_1211-157insG	ENSP00000183936.4:n.1211-158_1211-157insG
ENST00000357568.7:c.1355-158_1355-157insG	ENSP00000350181.3:n.1355-158_1355-157insG
ENST00000397163.7:c.1355-158_1355-157insG	ENSP00000380349.3:n.1355-158_1355-157insG
NM_000070.2:c.1355-158_1355-157insG	NP_000061.1:n.1355-158_1355-157insG
NM_024344.1:c.1355-158_1355-157insG	NP_077320.1:n.1355-158_1355-157insG
NM_173087.1:c.1211-158_1211-157insG	NP_775110.1:n.1211-158_1211-157insG
NM_000070.3:c.1355-158_1355-157insG MANE Select	NP_000061.1:n.1355-158_1355-157insG
NM_024344.2:c.1355-158_1355-157insG	NP_077320.1:n.1355-158_1355-157insG
NM_173087.2:c.1211-158_1211-157insG	NP_775110.1:n.1211-158_1211-157insG