Canonical Allele Identifier: CA2172718838

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401581_42401582delinsAT , CM000677.2:g.42401581_42401582delinsAT	GRCh38
NC_000015.9:g.42693779_42693780delinsAT , CM000677.1:g.42693779_42693780delinsAT	GRCh37
NC_000015.8:g.40481071_40481072delinsAT	NCBI36
NG_008660.1:g.58479_58480delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-60_1211-59delinsAT	ENSP00000183936.4:n.1211-60_1211-59delinsAT
ENST00000357568.8:c.1355-60_1355-59delinsAT	ENSP00000350181.3:n.1355-60_1355-59delinsAT
ENST00000397163.8:c.1355-60_1355-59delinsAT MANE Select	ENSP00000380349.3:n.1355-60_1355-59delinsAT
ENST00000466369.5:n.1864-60_1864-59delinsAT
ENST00000483208.5:n.1586-60_1586-59delinsAT
ENST00000495723.1:n.1586-60_1586-59delinsAT
ENST00000549793.5:n.1586-60_1586-59delinsAT
ENST00000638141.2:n.1226-60_1226-59delinsAT
ENST00000673705.1:c.309+1929_309+1930delinsAT	ENSP00000501021.1:n.309+1929_309+1930delinsAT
ENST00000318023.11:c.1211-60_1211-59delinsAT	ENSP00000326281.8:n.1211-60_1211-59delinsAT
ENST00000349748.7:c.1211-60_1211-59delinsAT	ENSP00000183936.4:n.1211-60_1211-59delinsAT
ENST00000357568.7:c.1355-60_1355-59delinsAT	ENSP00000350181.3:n.1355-60_1355-59delinsAT
ENST00000397163.7:c.1355-60_1355-59delinsAT	ENSP00000380349.3:n.1355-60_1355-59delinsAT
NM_000070.2:c.1355-60_1355-59delinsAT	NP_000061.1:n.1355-60_1355-59delinsAT
NM_024344.1:c.1355-60_1355-59delinsAT	NP_077320.1:n.1355-60_1355-59delinsAT
NM_173087.1:c.1211-60_1211-59delinsAT	NP_775110.1:n.1211-60_1211-59delinsAT
NM_000070.3:c.1355-60_1355-59delinsAT MANE Select	NP_000061.1:n.1355-60_1355-59delinsAT
NM_024344.2:c.1355-60_1355-59delinsAT	NP_077320.1:n.1355-60_1355-59delinsAT
NM_173087.2:c.1211-60_1211-59delinsAT	NP_775110.1:n.1211-60_1211-59delinsAT