Canonical Allele Identifier: CA2172697373

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359939_42359942delinsCCAT , CM000677.2:g.42359939_42359942delinsCCAT	GRCh38
NC_000015.9:g.42652137_42652140delinsCCAT , CM000677.1:g.42652137_42652140delinsCCAT	GRCh37
NC_000015.8:g.40439429_40439432delinsCCAT	NCBI36
NG_008660.1:g.16837_16840delinsCCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.134_137delinsCCAT	ENSP00000183936.4:p.Ala45=
ENST00000357568.8:c.134_137delinsCCAT	ENSP00000350181.3:p.Ala45=
ENST00000397163.8:c.134_137delinsCCAT MANE Select	ENSP00000380349.3:p.Ala45=
ENST00000466369.5:n.540+5486_540+5489delinsCCAT
ENST00000483208.5:n.540+5486_540+5489delinsCCAT
ENST00000495723.1:n.540+5486_540+5489delinsCCAT
ENST00000549793.5:n.540+5486_540+5489delinsCCAT
ENST00000318023.11:c.134_137delinsCCAT	ENSP00000326281.8:p.Ala45=
ENST00000349748.7:c.134_137delinsCCAT	ENSP00000183936.4:p.Ala45=
ENST00000357568.7:c.134_137delinsCCAT	ENSP00000350181.3:p.Ala45=
ENST00000397163.7:c.134_137delinsCCAT	ENSP00000380349.3:p.Ala45=
NM_000070.2:c.134_137delinsCCAT	NP_000061.1:p.Ala45=
NM_024344.1:c.134_137delinsCCAT	NP_077320.1:p.Ala45=
NM_173087.1:c.134_137delinsCCAT	NP_775110.1:p.Ala45=
NM_000070.3:c.134_137delinsCCAT MANE Select	NP_000061.1:p.Ala45=
NM_024344.2:c.134_137delinsCCAT	NP_077320.1:p.Ala45=
NM_173087.2:c.134_137delinsCCAT	NP_775110.1:p.Ala45=