Canonical Allele Identifier: CA2695220004

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402981dup , CM000677.2:g.42402981dup	GRCh38
NC_000015.9:g.42695179dup , CM000677.1:g.42695179dup	GRCh37
NC_000015.8:g.40482471dup	NCBI36
NG_008660.1:g.59879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1580dup	ENSP00000183936.4:p.Glu528Ter
ENST00000357568.8:c.1724dup	ENSP00000350181.3:p.Glu576Ter
ENST00000397163.8:c.1724dup MANE Select	ENSP00000380349.3:p.Glu576Ter
ENST00000466369.5:n.2233dup
ENST00000483208.5:n.2613dup
ENST00000495723.1:n.2613dup
ENST00000549793.5:n.1955dup
ENST00000638141.2:n.1595dup
ENST00000673646.1:c.188dup	ENSP00000501007.1:p.Glu64Ter
ENST00000673705.1:c.309+3329dup	ENSP00000501021.1:n.309+3329dup
ENST00000673813.1:n.580+66dup
ENST00000318023.11:c.1580dup	ENSP00000326281.8:p.Glu528Ter
ENST00000349748.7:c.1580dup	ENSP00000183936.4:p.Glu528Ter
ENST00000357568.7:c.1724dup	ENSP00000350181.3:p.Glu576Ter
ENST00000397163.7:c.1724dup	ENSP00000380349.3:p.Glu576Ter
ENST00000397200.8:c.188dup	ENSP00000380384.4:p.Glu64Ter
ENST00000567071.5:c.183dup
ENST00000569827.5:c.188dup	ENSP00000454379.1:p.Glu64Ter
NM_000070.2:c.1724dup	NP_000061.1:p.Glu576Ter
NM_024344.1:c.1724dup	NP_077320.1:p.Glu576Ter
NM_173087.1:c.1580dup	NP_775110.1:p.Glu528Ter
NM_173088.1:c.188dup	NP_775111.1:p.Glu64Ter
NM_000070.3:c.1724dup MANE Select	NP_000061.1:p.Glu576Ter
NM_024344.2:c.1724dup	NP_077320.1:p.Glu576Ter
NM_173087.2:c.1580dup	NP_775110.1:p.Glu528Ter
NM_173088.2:c.188dup	NP_775111.1:p.Glu64Ter