Canonical Allele Identifier: CA269843533

Gene: CAPN3

Linked Data

• dbSNP Id: rs34740433
• MyVariant Identifiers: chr15:g.42693483_42693484insT (hg19) ; chr15:g.42401285_42401286insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401285_42401286insT , CM000677.2:g.42401285_42401286insT	GRCh38
NC_000015.9:g.42693483_42693484insT , CM000677.1:g.42693483_42693484insT	GRCh37
NC_000015.8:g.40480775_40480776insT	NCBI36
NG_008660.1:g.58183_58184insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-356_1211-355insT	ENSP00000183936.4:n.1211-356_1211-355insT
ENST00000357568.8:c.1355-356_1355-355insT	ENSP00000350181.3:n.1355-356_1355-355insT
ENST00000397163.8:c.1355-356_1355-355insT MANE Select	ENSP00000380349.3:n.1355-356_1355-355insT
ENST00000466369.5:n.1864-356_1864-355insT
ENST00000483208.5:n.1586-356_1586-355insT
ENST00000495723.1:n.1586-356_1586-355insT
ENST00000549793.5:n.1586-356_1586-355insT
ENST00000638141.2:n.1226-356_1226-355insT
ENST00000673705.1:c.309+1633_309+1634insT	ENSP00000501021.1:n.309+1633_309+1634insT
ENST00000318023.11:c.1211-356_1211-355insT	ENSP00000326281.8:n.1211-356_1211-355insT
ENST00000349748.7:c.1211-356_1211-355insT	ENSP00000183936.4:n.1211-356_1211-355insT
ENST00000357568.7:c.1355-356_1355-355insT	ENSP00000350181.3:n.1355-356_1355-355insT
ENST00000397163.7:c.1355-356_1355-355insT	ENSP00000380349.3:n.1355-356_1355-355insT
NM_000070.2:c.1355-356_1355-355insT	NP_000061.1:n.1355-356_1355-355insT
NM_024344.1:c.1355-356_1355-355insT	NP_077320.1:n.1355-356_1355-355insT
NM_173087.1:c.1211-356_1211-355insT	NP_775110.1:n.1211-356_1211-355insT
NM_000070.3:c.1355-356_1355-355insT MANE Select	NP_000061.1:n.1355-356_1355-355insT
NM_024344.2:c.1355-356_1355-355insT	NP_077320.1:n.1355-356_1355-355insT
NM_173087.2:c.1211-356_1211-355insT	NP_775110.1:n.1211-356_1211-355insT