Canonical Allele Identifier: CA2172697485

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360154_42360155delinsCG , CM000677.2:g.42360154_42360155delinsCG	GRCh38
NC_000015.9:g.42652352_42652353delinsCG , CM000677.1:g.42652352_42652353delinsCG	GRCh37
NC_000015.8:g.40439644_40439645delinsCG	NCBI36
NG_008660.1:g.17052_17053delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+40_309+41delinsCG	ENSP00000183936.4:n.309+40_309+41delinsCG
ENST00000357568.8:c.309+40_309+41delinsCG	ENSP00000350181.3:n.309+40_309+41delinsCG
ENST00000397163.8:c.309+40_309+41delinsCG MANE Select	ENSP00000380349.3:n.309+40_309+41delinsCG
ENST00000466369.5:n.540+5701_540+5702delinsCG
ENST00000483208.5:n.540+5701_540+5702delinsCG
ENST00000495723.1:n.540+5701_540+5702delinsCG
ENST00000549793.5:n.540+5701_540+5702delinsCG
ENST00000318023.11:c.309+40_309+41delinsCG	ENSP00000326281.8:n.309+40_309+41delinsCG
ENST00000349748.7:c.309+40_309+41delinsCG	ENSP00000183936.4:n.309+40_309+41delinsCG
ENST00000357568.7:c.309+40_309+41delinsCG	ENSP00000350181.3:n.309+40_309+41delinsCG
ENST00000397163.7:c.309+40_309+41delinsCG	ENSP00000380349.3:n.309+40_309+41delinsCG
NM_000070.2:c.309+40_309+41delinsCG	NP_000061.1:n.309+40_309+41delinsCG
NM_024344.1:c.309+40_309+41delinsCG	NP_077320.1:n.309+40_309+41delinsCG
NM_173087.1:c.309+40_309+41delinsCG	NP_775110.1:n.309+40_309+41delinsCG
NM_000070.3:c.309+40_309+41delinsCG MANE Select	NP_000061.1:n.309+40_309+41delinsCG
NM_024344.2:c.309+40_309+41delinsCG	NP_077320.1:n.309+40_309+41delinsCG
NM_173087.2:c.309+40_309+41delinsCG	NP_775110.1:n.309+40_309+41delinsCG