Canonical Allele Identifier: CA2172711966

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392453_42392455delinsCTG , CM000677.2:g.42392453_42392455delinsCTG	GRCh38
NC_000015.9:g.42684651_42684653delinsCTG , CM000677.1:g.42684651_42684653delinsCTG	GRCh37
NC_000015.8:g.40471943_40471945delinsCTG	NCBI36
NG_008660.1:g.49351_49353delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.802-186_802-184delinsCTG	ENSP00000183936.4:n.802-186_802-184delinsCTG
ENST00000357568.8:c.946-186_946-184delinsCTG	ENSP00000350181.3:n.946-186_946-184delinsCTG
ENST00000397163.8:c.946-186_946-184delinsCTG MANE Select	ENSP00000380349.3:n.946-186_946-184delinsCTG
ENST00000466369.5:n.1455-186_1455-184delinsCTG
ENST00000483208.5:n.1177-186_1177-184delinsCTG
ENST00000495723.1:n.1177-186_1177-184delinsCTG
ENST00000549793.5:n.1177-186_1177-184delinsCTG
ENST00000638141.2:n.817-186_817-184delinsCTG
ENST00000673705.1:c.71-4347_71-4345delinsCTG	ENSP00000501021.1:n.71-4347_71-4345delinsCTG
ENST00000318023.11:c.802-186_802-184delinsCTG	ENSP00000326281.8:n.802-186_802-184delinsCTG
ENST00000349748.7:c.802-186_802-184delinsCTG	ENSP00000183936.4:n.802-186_802-184delinsCTG
ENST00000357568.7:c.946-186_946-184delinsCTG	ENSP00000350181.3:n.946-186_946-184delinsCTG
ENST00000397163.7:c.946-186_946-184delinsCTG	ENSP00000380349.3:n.946-186_946-184delinsCTG
NM_000070.2:c.946-186_946-184delinsCTG	NP_000061.1:n.946-186_946-184delinsCTG
NM_024344.1:c.946-186_946-184delinsCTG	NP_077320.1:n.946-186_946-184delinsCTG
NM_173087.1:c.802-186_802-184delinsCTG	NP_775110.1:n.802-186_802-184delinsCTG
NM_000070.3:c.946-186_946-184delinsCTG MANE Select	NP_000061.1:n.946-186_946-184delinsCTG
NM_024344.2:c.946-186_946-184delinsCTG	NP_077320.1:n.946-186_946-184delinsCTG
NM_173087.2:c.802-186_802-184delinsCTG	NP_775110.1:n.802-186_802-184delinsCTG