Canonical Allele Identifier: CA2172710297

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389006_42389007delinsGT , CM000677.2:g.42389006_42389007delinsGT	GRCh38
NC_000015.9:g.42681204_42681205delinsGT , CM000677.1:g.42681204_42681205delinsGT	GRCh37
NC_000015.8:g.40468496_40468497delinsGT	NCBI36
NG_008660.1:g.45904_45905delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.711_712delinsGT	ENSP00000183936.4:p.Glu237=
ENST00000357568.8:c.711_712delinsGT	ENSP00000350181.3:p.Glu237=
ENST00000397163.8:c.711_712delinsGT MANE Select	ENSP00000380349.3:p.Glu237=
ENST00000466369.5:n.1220_1221delinsGT
ENST00000483208.5:n.942_943delinsGT
ENST00000495723.1:n.942_943delinsGT
ENST00000549793.5:n.942_943delinsGT
ENST00000638141.2:n.726_727delinsGT
ENST00000673705.1:c.70+4454_70+4455delinsGT	ENSP00000501021.1:n.70+4454_70+4455delinsGT
ENST00000318023.11:c.711_712delinsGT	ENSP00000326281.8:p.Glu237=
ENST00000349748.7:c.711_712delinsGT	ENSP00000183936.4:p.Glu237=
ENST00000357568.7:c.711_712delinsGT	ENSP00000350181.3:p.Glu237=
ENST00000397163.7:c.711_712delinsGT	ENSP00000380349.3:p.Glu237=
NM_000070.2:c.711_712delinsGT	NP_000061.1:p.Glu237=
NM_024344.1:c.711_712delinsGT	NP_077320.1:p.Glu237=
NM_173087.1:c.711_712delinsGT	NP_775110.1:p.Glu237=
NM_000070.3:c.711_712delinsGT MANE Select	NP_000061.1:p.Glu237=
NM_024344.2:c.711_712delinsGT	NP_077320.1:p.Glu237=
NM_173087.2:c.711_712delinsGT	NP_775110.1:p.Glu237=