Canonical Allele Identifier: CA969127216

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053860124
• gnomAD v3: 15-42401472-C-CGGGG
• gnomAD v4: 15-42401472-C-CGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401473_42401474insGGGG , CM000677.2:g.42401473_42401474insGGGG	GRCh38
NC_000015.9:g.42693671_42693672insGGGG , CM000677.1:g.42693671_42693672insGGGG	GRCh37
NC_000015.8:g.40480963_40480964insGGGG	NCBI36
NG_008660.1:g.58371_58372insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-168_1211-167insGGGG	ENSP00000183936.4:n.1211-168_1211-167insGGGG
ENST00000357568.8:c.1355-168_1355-167insGGGG	ENSP00000350181.3:n.1355-168_1355-167insGGGG
ENST00000397163.8:c.1355-168_1355-167insGGGG MANE Select	ENSP00000380349.3:n.1355-168_1355-167insGGGG
ENST00000466369.5:n.1864-168_1864-167insGGGG
ENST00000483208.5:n.1586-168_1586-167insGGGG
ENST00000495723.1:n.1586-168_1586-167insGGGG
ENST00000549793.5:n.1586-168_1586-167insGGGG
ENST00000638141.2:n.1226-168_1226-167insGGGG
ENST00000673705.1:c.309+1821_309+1822insGGGG	ENSP00000501021.1:n.309+1821_309+1822insGGGG
ENST00000318023.11:c.1211-168_1211-167insGGGG	ENSP00000326281.8:n.1211-168_1211-167insGGGG
ENST00000349748.7:c.1211-168_1211-167insGGGG	ENSP00000183936.4:n.1211-168_1211-167insGGGG
ENST00000357568.7:c.1355-168_1355-167insGGGG	ENSP00000350181.3:n.1355-168_1355-167insGGGG
ENST00000397163.7:c.1355-168_1355-167insGGGG	ENSP00000380349.3:n.1355-168_1355-167insGGGG
NM_000070.2:c.1355-168_1355-167insGGGG	NP_000061.1:n.1355-168_1355-167insGGGG
NM_024344.1:c.1355-168_1355-167insGGGG	NP_077320.1:n.1355-168_1355-167insGGGG
NM_173087.1:c.1211-168_1211-167insGGGG	NP_775110.1:n.1211-168_1211-167insGGGG
NM_000070.3:c.1355-168_1355-167insGGGG MANE Select	NP_000061.1:n.1355-168_1355-167insGGGG
NM_024344.2:c.1355-168_1355-167insGGGG	NP_077320.1:n.1355-168_1355-167insGGGG
NM_173087.2:c.1211-168_1211-167insGGGG	NP_775110.1:n.1211-168_1211-167insGGGG