Canonical Allele Identifier: CA2172718942

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401656_42401657delinsAC , CM000677.2:g.42401656_42401657delinsAC	GRCh38
NC_000015.9:g.42693854_42693855delinsAC , CM000677.1:g.42693854_42693855delinsAC	GRCh37
NC_000015.8:g.40481146_40481147delinsAC	NCBI36
NG_008660.1:g.58554_58555delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1226_1227delinsAC	ENSP00000183936.4:p.Asn409=
ENST00000357568.8:c.1370_1371delinsAC	ENSP00000350181.3:p.Asn457=
ENST00000397163.8:c.1370_1371delinsAC MANE Select	ENSP00000380349.3:p.Asn457=
ENST00000466369.5:n.1879_1880delinsAC
ENST00000483208.5:n.1601_1602delinsAC
ENST00000495723.1:n.1601_1602delinsAC
ENST00000549793.5:n.1601_1602delinsAC
ENST00000638141.2:n.1241_1242delinsAC
ENST00000673705.1:c.309+2004_309+2005delinsAC	ENSP00000501021.1:n.309+2004_309+2005delinsAC
ENST00000318023.11:c.1226_1227delinsAC	ENSP00000326281.8:p.Asn409=
ENST00000349748.7:c.1226_1227delinsAC	ENSP00000183936.4:p.Asn409=
ENST00000357568.7:c.1370_1371delinsAC	ENSP00000350181.3:p.Asn457=
ENST00000397163.7:c.1370_1371delinsAC	ENSP00000380349.3:p.Asn457=
NM_000070.2:c.1370_1371delinsAC	NP_000061.1:p.Asn457=
NM_024344.1:c.1370_1371delinsAC	NP_077320.1:p.Asn457=
NM_173087.1:c.1226_1227delinsAC	NP_775110.1:p.Asn409=
NM_000070.3:c.1370_1371delinsAC MANE Select	NP_000061.1:p.Asn457=
NM_024344.2:c.1370_1371delinsAC	NP_077320.1:p.Asn457=
NM_173087.2:c.1226_1227delinsAC	NP_775110.1:p.Asn409=