Canonical Allele Identifier: CA2575695394

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389024dup , CM000677.2:g.42389024dup	GRCh38
NC_000015.9:g.42681222dup , CM000677.1:g.42681222dup	GRCh37
NC_000015.8:g.40468514dup	NCBI36
NG_008660.1:g.45922dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.729dup	ENSP00000183936.4:p.Ala244CysfsTer3
ENST00000357568.8:c.729dup	ENSP00000350181.3:p.Ala244CysfsTer3
ENST00000397163.8:c.729dup MANE Select	ENSP00000380349.3:p.Ala244CysfsTer3
ENST00000466369.5:n.1238dup
ENST00000483208.5:n.960dup
ENST00000495723.1:n.960dup
ENST00000549793.5:n.960dup
ENST00000638141.2:n.744dup
ENST00000673705.1:c.70+4472dup	ENSP00000501021.1:n.70+4472dup
ENST00000318023.11:c.729dup	ENSP00000326281.8:p.Ala244CysfsTer3
ENST00000349748.7:c.729dup	ENSP00000183936.4:p.Ala244CysfsTer3
ENST00000357568.7:c.729dup	ENSP00000350181.3:p.Ala244CysfsTer3
ENST00000397163.7:c.729dup	ENSP00000380349.3:p.Ala244CysfsTer3
NM_000070.2:c.729dup	NP_000061.1:p.Ala244CysfsTer3
NM_024344.1:c.729dup	NP_077320.1:p.Ala244CysfsTer3
NM_173087.1:c.729dup	NP_775110.1:p.Ala244CysfsTer3
NM_000070.3:c.729dup MANE Select	NP_000061.1:p.Ala244CysfsTer3
NM_024344.2:c.729dup	NP_077320.1:p.Ala244CysfsTer3
NM_173087.2:c.729dup	NP_775110.1:p.Ala244CysfsTer3