Canonical Allele Identifier: CA269843621

Gene: CAPN3

Linked Data

• dbSNP Id: rs375008012
• gnomAD v2: 15-42693672-C-CG
• gnomAD v3: 15-42401474-C-CG
• gnomAD v4: 15-42401474-C-CG
• MyVariant Identifiers: chr15:g.42693672_42693673insG (hg19) ; chr15:g.42401474_42401475insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401474_42401475insG , CM000677.2:g.42401474_42401475insG	GRCh38
NC_000015.9:g.42693672_42693673insG , CM000677.1:g.42693672_42693673insG	GRCh37
NC_000015.8:g.40480964_40480965insG	NCBI36
NG_008660.1:g.58372_58373insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-167_1211-166insG	ENSP00000183936.4:n.1211-167_1211-166insG
ENST00000357568.8:c.1355-167_1355-166insG	ENSP00000350181.3:n.1355-167_1355-166insG
ENST00000397163.8:c.1355-167_1355-166insG MANE Select	ENSP00000380349.3:n.1355-167_1355-166insG
ENST00000466369.5:n.1864-167_1864-166insG
ENST00000483208.5:n.1586-167_1586-166insG
ENST00000495723.1:n.1586-167_1586-166insG
ENST00000549793.5:n.1586-167_1586-166insG
ENST00000638141.2:n.1226-167_1226-166insG
ENST00000673705.1:c.309+1822_309+1823insG	ENSP00000501021.1:n.309+1822_309+1823insG
ENST00000318023.11:c.1211-167_1211-166insG	ENSP00000326281.8:n.1211-167_1211-166insG
ENST00000349748.7:c.1211-167_1211-166insG	ENSP00000183936.4:n.1211-167_1211-166insG
ENST00000357568.7:c.1355-167_1355-166insG	ENSP00000350181.3:n.1355-167_1355-166insG
ENST00000397163.7:c.1355-167_1355-166insG	ENSP00000380349.3:n.1355-167_1355-166insG
NM_000070.2:c.1355-167_1355-166insG	NP_000061.1:n.1355-167_1355-166insG
NM_024344.1:c.1355-167_1355-166insG	NP_077320.1:n.1355-167_1355-166insG
NM_173087.1:c.1211-167_1211-166insG	NP_775110.1:n.1211-167_1211-166insG
NM_000070.3:c.1355-167_1355-166insG MANE Select	NP_000061.1:n.1355-167_1355-166insG
NM_024344.2:c.1355-167_1355-166insG	NP_077320.1:n.1355-167_1355-166insG
NM_173087.2:c.1211-167_1211-166insG	NP_775110.1:n.1211-167_1211-166insG