Canonical Allele Identifier: CA2172712056

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392634_42392638delinsTACAG , CM000677.2:g.42392634_42392638delinsTACAG	GRCh38
NC_000015.9:g.42684832_42684836delinsTACAG , CM000677.1:g.42684832_42684836delinsTACAG	GRCh37
NC_000015.8:g.40472124_40472128delinsTACAG	NCBI36
NG_008660.1:g.49532_49536delinsTACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-5_802-1delinsTACAG	ENSP00000183936.4:n.802-5_802-1delinsTACA...
ENST00000357568.8:c.946-5_946-1delinsTACAG	ENSP00000350181.3:n.946-5_946-1delinsTACA...
ENST00000397163.8:c.946-5_946-1delinsTACAG MANE Select	ENSP00000380349.3:n.946-5_946-1delinsTACA...
ENST00000466369.5:n.1455-5_1455-1delinsTACAG
ENST00000483208.5:n.1177-5_1177-1delinsTACAG
ENST00000495723.1:n.1177-5_1177-1delinsTACAG
ENST00000549793.5:n.1177-5_1177-1delinsTACAG
ENST00000638141.2:n.817-5_817-1delinsTACAG
ENST00000673705.1:c.71-4166_71-4162delinsTACAG	ENSP00000501021.1:n.71-4166_71-4162delins...
ENST00000318023.11:c.802-5_802-1delinsTACAG	ENSP00000326281.8:n.802-5_802-1delinsTACA...
ENST00000349748.7:c.802-5_802-1delinsTACAG	ENSP00000183936.4:n.802-5_802-1delinsTACA...
ENST00000357568.7:c.946-5_946-1delinsTACAG	ENSP00000350181.3:n.946-5_946-1delinsTACA...
ENST00000397163.7:c.946-5_946-1delinsTACAG	ENSP00000380349.3:n.946-5_946-1delinsTACA...
NM_000070.2:c.946-5_946-1delinsTACAG	NP_000061.1:n.946-5_946-1delinsTACAG
NM_024344.1:c.946-5_946-1delinsTACAG	NP_077320.1:n.946-5_946-1delinsTACAG
NM_173087.1:c.802-5_802-1delinsTACAG	NP_775110.1:n.802-5_802-1delinsTACAG
NM_000070.3:c.946-5_946-1delinsTACAG MANE Select	NP_000061.1:n.946-5_946-1delinsTACAG
NM_024344.2:c.946-5_946-1delinsTACAG	NP_077320.1:n.946-5_946-1delinsTACAG
NM_173087.2:c.802-5_802-1delinsTACAG	NP_775110.1:n.802-5_802-1delinsTACAG