Canonical Allele Identifier: CA969127236

Gene: CAPN3

Linked Data

• dbSNP Id: rs1566980177
• gnomAD v3: 15-42401473-G-GGCC
• gnomAD v4: 15-42401473-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401473_42401474insGCC , CM000677.2:g.42401473_42401474insGCC	GRCh38
NC_000015.9:g.42693671_42693672insGCC , CM000677.1:g.42693671_42693672insGCC	GRCh37
NC_000015.8:g.40480963_40480964insGCC	NCBI36
NG_008660.1:g.58371_58372insGCC

Transcript Alleles

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