Canonical Allele Identifier: CA2575695369

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42387865del , CM000677.2:g.42387865del	GRCh38
NC_000015.9:g.42680063del , CM000677.1:g.42680063del	GRCh37
NC_000015.8:g.40467355del	NCBI36
NG_008660.1:g.44763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.611del	ENSP00000183936.4:p.Leu204ArgfsTer16
ENST00000357568.8:c.611del	ENSP00000350181.3:p.Leu204ArgfsTer16
ENST00000397163.8:c.611del MANE Select	ENSP00000380349.3:p.Leu204ArgfsTer16
ENST00000466369.5:n.1120del
ENST00000483208.5:n.842del
ENST00000495723.1:n.842del
ENST00000549793.5:n.842del
ENST00000638141.2:n.626del
ENST00000673705.1:c.70+3313del	ENSP00000501021.1:n.70+3313del
ENST00000318023.11:c.611del	ENSP00000326281.8:p.Leu204ArgfsTer16
ENST00000349748.7:c.611del	ENSP00000183936.4:p.Leu204ArgfsTer16
ENST00000357568.7:c.611del	ENSP00000350181.3:p.Leu204ArgfsTer16
ENST00000397163.7:c.611del	ENSP00000380349.3:p.Leu204ArgfsTer16
NM_000070.2:c.611del	NP_000061.1:p.Leu204ArgfsTer16
NM_024344.1:c.611del	NP_077320.1:p.Leu204ArgfsTer16
NM_173087.1:c.611del	NP_775110.1:p.Leu204ArgfsTer16
NM_000070.3:c.611del MANE Select	NP_000061.1:p.Leu204ArgfsTer16
NM_024344.2:c.611del	NP_077320.1:p.Leu204ArgfsTer16
NM_173087.2:c.611del	NP_775110.1:p.Leu204ArgfsTer16