Canonical Allele Identifier: CA712902452

Gene: CAPN3

Linked Data

• dbSNP Id: rs3036710
• gnomAD v3: 15-42401485-C-CCTT
• gnomAD v4: 15-42401485-C-CCTT
• MyVariant Identifiers: chr15:g.42693683_42693684insCTT (hg19) ; chr15:g.42401485_42401486insCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401486_42401487insTTC , CM000677.2:g.42401486_42401487insTTC	GRCh38
NC_000015.9:g.42693684_42693685insTTC , CM000677.1:g.42693684_42693685insTTC	GRCh37
NC_000015.8:g.40480976_40480977insTTC	NCBI36
NG_008660.1:g.58384_58385insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-155_1211-154insTTC	ENSP00000183936.4:n.1211-155_1211-154insTTC
ENST00000357568.8:c.1355-155_1355-154insTTC	ENSP00000350181.3:n.1355-155_1355-154insTTC
ENST00000397163.8:c.1355-155_1355-154insTTC MANE Select	ENSP00000380349.3:n.1355-155_1355-154insTTC
ENST00000466369.5:n.1864-155_1864-154insTTC
ENST00000483208.5:n.1586-155_1586-154insTTC
ENST00000495723.1:n.1586-155_1586-154insTTC
ENST00000549793.5:n.1586-155_1586-154insTTC
ENST00000638141.2:n.1226-155_1226-154insTTC
ENST00000673705.1:c.309+1834_309+1835insTTC	ENSP00000501021.1:n.309+1834_309+1835insTTC
ENST00000318023.11:c.1211-155_1211-154insTTC	ENSP00000326281.8:n.1211-155_1211-154insTTC
ENST00000349748.7:c.1211-155_1211-154insTTC	ENSP00000183936.4:n.1211-155_1211-154insTTC
ENST00000357568.7:c.1355-155_1355-154insTTC	ENSP00000350181.3:n.1355-155_1355-154insTTC
ENST00000397163.7:c.1355-155_1355-154insTTC	ENSP00000380349.3:n.1355-155_1355-154insTTC
NM_000070.2:c.1355-155_1355-154insTTC	NP_000061.1:n.1355-155_1355-154insTTC
NM_024344.1:c.1355-155_1355-154insTTC	NP_077320.1:n.1355-155_1355-154insTTC
NM_173087.1:c.1211-155_1211-154insTTC	NP_775110.1:n.1211-155_1211-154insTTC
NM_000070.3:c.1355-155_1355-154insTTC MANE Select	NP_000061.1:n.1355-155_1355-154insTTC
NM_024344.2:c.1355-155_1355-154insTTC	NP_077320.1:n.1355-155_1355-154insTTC
NM_173087.2:c.1211-155_1211-154insTTC	NP_775110.1:n.1211-155_1211-154insTTC