Canonical Allele Identifier: CA2628031650

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42401594-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401597_42401598del , CM000677.2:g.42401597_42401598del	GRCh38
NC_000015.9:g.42693795_42693796del , CM000677.1:g.42693795_42693796del	GRCh37
NC_000015.8:g.40481087_40481088del	NCBI36
NG_008660.1:g.58495_58496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-44_1211-43del	ENSP00000183936.4:n.1211-44_1211-43del
ENST00000357568.8:c.1355-44_1355-43del	ENSP00000350181.3:n.1355-44_1355-43del
ENST00000397163.8:c.1355-44_1355-43del MANE Select	ENSP00000380349.3:n.1355-44_1355-43del
ENST00000466369.5:n.1864-44_1864-43del
ENST00000483208.5:n.1586-44_1586-43del
ENST00000495723.1:n.1586-44_1586-43del
ENST00000549793.5:n.1586-44_1586-43del
ENST00000638141.2:n.1226-44_1226-43del
ENST00000673705.1:c.309+1945_309+1946del	ENSP00000501021.1:n.309+1945_309+1946del
ENST00000318023.11:c.1211-44_1211-43del	ENSP00000326281.8:n.1211-44_1211-43del
ENST00000349748.7:c.1211-44_1211-43del	ENSP00000183936.4:n.1211-44_1211-43del
ENST00000357568.7:c.1355-44_1355-43del	ENSP00000350181.3:n.1355-44_1355-43del
ENST00000397163.7:c.1355-44_1355-43del	ENSP00000380349.3:n.1355-44_1355-43del
NM_000070.2:c.1355-44_1355-43del	NP_000061.1:n.1355-44_1355-43del
NM_024344.1:c.1355-44_1355-43del	NP_077320.1:n.1355-44_1355-43del
NM_173087.1:c.1211-44_1211-43del	NP_775110.1:n.1211-44_1211-43del
NM_000070.3:c.1355-44_1355-43del MANE Select	NP_000061.1:n.1355-44_1355-43del
NM_024344.2:c.1355-44_1355-43del	NP_077320.1:n.1355-44_1355-43del
NM_173087.2:c.1211-44_1211-43del	NP_775110.1:n.1211-44_1211-43del