Canonical Allele Identifier: CA712902428

Gene: CAPN3

Linked Data

• dbSNP Id: rs1555422056
• MyVariant Identifiers: chr15:g.42693680_42693681insCT (hg19) ; chr15:g.42401482_42401483insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401483_42401484insTC , CM000677.2:g.42401483_42401484insTC	GRCh38
NC_000015.9:g.42693681_42693682insTC , CM000677.1:g.42693681_42693682insTC	GRCh37
NC_000015.8:g.40480973_40480974insTC	NCBI36
NG_008660.1:g.58381_58382insTC

Transcript Alleles

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