Canonical Allele Identifier: CA2628027991

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42360238-G-GCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360238_42360239insCCA , CM000677.2:g.42360238_42360239insCCA	GRCh38
NC_000015.9:g.42652436_42652437insCCA , CM000677.1:g.42652436_42652437insCCA	GRCh37
NC_000015.8:g.40439728_40439729insCCA	NCBI36
NG_008660.1:g.17136_17137insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+124_309+125insCCA	ENSP00000183936.4:n.309+124_309+125insCCA
ENST00000357568.8:c.309+124_309+125insCCA	ENSP00000350181.3:n.309+124_309+125insCCA
ENST00000397163.8:c.309+124_309+125insCCA MANE Select	ENSP00000380349.3:n.309+124_309+125insCCA
ENST00000466369.5:n.540+5785_540+5786insCCA
ENST00000483208.5:n.540+5785_540+5786insCCA
ENST00000495723.1:n.540+5785_540+5786insCCA
ENST00000549793.5:n.540+5785_540+5786insCCA
ENST00000318023.11:c.309+124_309+125insCCA	ENSP00000326281.8:n.309+124_309+125insCCA
ENST00000349748.7:c.309+124_309+125insCCA	ENSP00000183936.4:n.309+124_309+125insCCA
ENST00000357568.7:c.309+124_309+125insCCA	ENSP00000350181.3:n.309+124_309+125insCCA
ENST00000397163.7:c.309+124_309+125insCCA	ENSP00000380349.3:n.309+124_309+125insCCA
NM_000070.2:c.309+124_309+125insCCA	NP_000061.1:n.309+124_309+125insCCA
NM_024344.1:c.309+124_309+125insCCA	NP_077320.1:n.309+124_309+125insCCA
NM_173087.1:c.309+124_309+125insCCA	NP_775110.1:n.309+124_309+125insCCA
NM_000070.3:c.309+124_309+125insCCA MANE Select	NP_000061.1:n.309+124_309+125insCCA
NM_024344.2:c.309+124_309+125insCCA	NP_077320.1:n.309+124_309+125insCCA
NM_173087.2:c.309+124_309+125insCCA	NP_775110.1:n.309+124_309+125insCCA