Canonical Allele Identifier: CA2695220007

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42403000_42403002del , CM000677.2:g.42403000_42403002del	GRCh38
NC_000015.9:g.42695198_42695200del , CM000677.1:g.42695198_42695200del	GRCh37
NC_000015.8:g.40482490_40482492del	NCBI36
NG_008660.1:g.59898_59900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1599_1601del	ENSP00000183936.4:p.Glu534del
ENST00000357568.8:c.1743_1745del	ENSP00000350181.3:p.Glu582del
ENST00000397163.8:c.1743_1745del MANE Select	ENSP00000380349.3:p.Glu582del
ENST00000466369.5:n.2252_2254del
ENST00000483208.5:n.2632_2634del
ENST00000495723.1:n.2632_2634del
ENST00000549793.5:n.1974_1976del
ENST00000638141.2:n.1614_1616del
ENST00000673646.1:c.207_209del	ENSP00000501007.1:p.Glu70del
ENST00000673705.1:c.309+3348_309+3350del	ENSP00000501021.1:n.309+3348_309+3350del
ENST00000673813.1:n.580+85_580+87del
ENST00000318023.11:c.1599_1601del	ENSP00000326281.8:p.Glu534del
ENST00000349748.7:c.1599_1601del	ENSP00000183936.4:p.Glu534del
ENST00000357568.7:c.1743_1745del	ENSP00000350181.3:p.Glu582del
ENST00000397163.7:c.1743_1745del	ENSP00000380349.3:p.Glu582del
ENST00000397200.8:c.207_209del	ENSP00000380384.4:p.Glu70del
ENST00000567071.5:c.202_204del
ENST00000569827.5:c.207_209del	ENSP00000454379.1:p.Glu70del
NM_000070.2:c.1743_1745del	NP_000061.1:p.Glu582del
NM_024344.1:c.1743_1745del	NP_077320.1:p.Glu582del
NM_173087.1:c.1599_1601del	NP_775110.1:p.Glu534del
NM_173088.1:c.207_209del	NP_775111.1:p.Glu70del
NM_000070.3:c.1743_1745del MANE Select	NP_000061.1:p.Glu582del
NM_024344.2:c.1743_1745del	NP_077320.1:p.Glu582del
NM_173087.2:c.1599_1601del	NP_775110.1:p.Glu534del
NM_173088.2:c.207_209del	NP_775111.1:p.Glu70del