Canonical Allele Identifier: CA2695220121

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388987dup , CM000677.2:g.42388987dup	GRCh38
NC_000015.9:g.42681185dup , CM000677.1:g.42681185dup	GRCh37
NC_000015.8:g.40468477dup	NCBI36
NG_008660.1:g.45885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.692dup	ENSP00000183936.4:p.Thr232HisfsTer9
ENST00000357568.8:c.692dup	ENSP00000350181.3:p.Thr232HisfsTer9
ENST00000397163.8:c.692dup MANE Select	ENSP00000380349.3:p.Thr232HisfsTer9
ENST00000466369.5:n.1201dup
ENST00000483208.5:n.923dup
ENST00000495723.1:n.923dup
ENST00000549793.5:n.923dup
ENST00000638141.2:n.707dup
ENST00000673705.1:c.70+4435dup	ENSP00000501021.1:n.70+4435dup
ENST00000318023.11:c.692dup	ENSP00000326281.8:p.Thr232HisfsTer9
ENST00000349748.7:c.692dup	ENSP00000183936.4:p.Thr232HisfsTer9
ENST00000357568.7:c.692dup	ENSP00000350181.3:p.Thr232HisfsTer9
ENST00000397163.7:c.692dup	ENSP00000380349.3:p.Thr232HisfsTer9
NM_000070.2:c.692dup	NP_000061.1:p.Thr232HisfsTer9
NM_024344.1:c.692dup	NP_077320.1:p.Thr232HisfsTer9
NM_173087.1:c.692dup	NP_775110.1:p.Thr232HisfsTer9
NM_000070.3:c.692dup MANE Select	NP_000061.1:p.Thr232HisfsTer9
NM_024344.2:c.692dup	NP_077320.1:p.Thr232HisfsTer9
NM_173087.2:c.692dup	NP_775110.1:p.Thr232HisfsTer9