Canonical Allele Identifier: CA2172697431

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360059_42360063delinsCCTCT , CM000677.2:g.42360059_42360063delinsCCTCT	GRCh38
NC_000015.9:g.42652257_42652261delinsCCTCT , CM000677.1:g.42652257_42652261delinsCCTCT	GRCh37
NC_000015.8:g.40439549_40439553delinsCCTCT	NCBI36
NG_008660.1:g.16957_16961delinsCCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.254_258delinsCCTCT	ENSP00000183936.4:p.Thr85=
ENST00000357568.8:c.254_258delinsCCTCT	ENSP00000350181.3:p.Thr85=
ENST00000397163.8:c.254_258delinsCCTCT MANE Select	ENSP00000380349.3:p.Thr85=
ENST00000466369.5:n.540+5606_540+5610delinsCCTCT
ENST00000483208.5:n.540+5606_540+5610delinsCCTCT
ENST00000495723.1:n.540+5606_540+5610delinsCCTCT
ENST00000549793.5:n.540+5606_540+5610delinsCCTCT
ENST00000318023.11:c.254_258delinsCCTCT	ENSP00000326281.8:p.Thr85=
ENST00000349748.7:c.254_258delinsCCTCT	ENSP00000183936.4:p.Thr85=
ENST00000357568.7:c.254_258delinsCCTCT	ENSP00000350181.3:p.Thr85=
ENST00000397163.7:c.254_258delinsCCTCT	ENSP00000380349.3:p.Thr85=
NM_000070.2:c.254_258delinsCCTCT	NP_000061.1:p.Thr85=
NM_024344.1:c.254_258delinsCCTCT	NP_077320.1:p.Thr85=
NM_173087.1:c.254_258delinsCCTCT	NP_775110.1:p.Thr85=
NM_000070.3:c.254_258delinsCCTCT MANE Select	NP_000061.1:p.Thr85=
NM_024344.2:c.254_258delinsCCTCT	NP_077320.1:p.Thr85=
NM_173087.2:c.254_258delinsCCTCT	NP_775110.1:p.Thr85=