Canonical Allele Identifier: CA2172718323

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401265_42401266delinsTA , CM000677.2:g.42401265_42401266delinsTA	GRCh38
NC_000015.9:g.42693463_42693464delinsTA , CM000677.1:g.42693463_42693464delinsTA	GRCh37
NC_000015.8:g.40480755_40480756delinsTA	NCBI36
NG_008660.1:g.58163_58164delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-376_1211-375delinsTA	ENSP00000183936.4:n.1211-376_1211-375delinsTA
ENST00000357568.8:c.1355-376_1355-375delinsTA	ENSP00000350181.3:n.1355-376_1355-375delinsTA
ENST00000397163.8:c.1355-376_1355-375delinsTA MANE Select	ENSP00000380349.3:n.1355-376_1355-375delinsTA
ENST00000466369.5:n.1864-376_1864-375delinsTA
ENST00000483208.5:n.1586-376_1586-375delinsTA
ENST00000495723.1:n.1586-376_1586-375delinsTA
ENST00000549793.5:n.1586-376_1586-375delinsTA
ENST00000638141.2:n.1226-376_1226-375delinsTA
ENST00000673705.1:c.309+1613_309+1614delinsTA	ENSP00000501021.1:n.309+1613_309+1614delinsTA
ENST00000318023.11:c.1211-376_1211-375delinsTA	ENSP00000326281.8:n.1211-376_1211-375delinsTA
ENST00000349748.7:c.1211-376_1211-375delinsTA	ENSP00000183936.4:n.1211-376_1211-375delinsTA
ENST00000357568.7:c.1355-376_1355-375delinsTA	ENSP00000350181.3:n.1355-376_1355-375delinsTA
ENST00000397163.7:c.1355-376_1355-375delinsTA	ENSP00000380349.3:n.1355-376_1355-375delinsTA
NM_000070.2:c.1355-376_1355-375delinsTA	NP_000061.1:n.1355-376_1355-375delinsTA
NM_024344.1:c.1355-376_1355-375delinsTA	NP_077320.1:n.1355-376_1355-375delinsTA
NM_173087.1:c.1211-376_1211-375delinsTA	NP_775110.1:n.1211-376_1211-375delinsTA
NM_000070.3:c.1355-376_1355-375delinsTA MANE Select	NP_000061.1:n.1355-376_1355-375delinsTA
NM_024344.2:c.1355-376_1355-375delinsTA	NP_077320.1:n.1355-376_1355-375delinsTA
NM_173087.2:c.1211-376_1211-375delinsTA	NP_775110.1:n.1211-376_1211-375delinsTA