Canonical Allele Identifier: CA2695219973

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359875_42359876del , CM000677.2:g.42359875_42359876del	GRCh38
NC_000015.9:g.42652073_42652074del , CM000677.1:g.42652073_42652074del	GRCh37
NC_000015.8:g.40439365_40439366del	NCBI36
NG_008660.1:g.16773_16774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.70_71del	ENSP00000183936.4:p.Pro24SerfsTer9
ENST00000357568.8:c.70_71del	ENSP00000350181.3:p.Pro24SerfsTer9
ENST00000397163.8:c.70_71del MANE Select	ENSP00000380349.3:p.Pro24SerfsTer9
ENST00000466369.5:n.540+5422_540+5423del
ENST00000483208.5:n.540+5422_540+5423del
ENST00000495723.1:n.540+5422_540+5423del
ENST00000549793.5:n.540+5422_540+5423del
ENST00000318023.11:c.70_71del	ENSP00000326281.8:p.Pro24SerfsTer9
ENST00000349748.7:c.70_71del	ENSP00000183936.4:p.Pro24SerfsTer9
ENST00000357568.7:c.70_71del	ENSP00000350181.3:p.Pro24SerfsTer9
ENST00000397163.7:c.70_71del	ENSP00000380349.3:p.Pro24SerfsTer9
NM_000070.2:c.70_71del	NP_000061.1:p.Pro24SerfsTer9
NM_024344.1:c.70_71del	NP_077320.1:p.Pro24SerfsTer9
NM_173087.1:c.70_71del	NP_775110.1:p.Pro24SerfsTer9
NM_000070.3:c.70_71del MANE Select	NP_000061.1:p.Pro24SerfsTer9
NM_024344.2:c.70_71del	NP_077320.1:p.Pro24SerfsTer9
NM_173087.2:c.70_71del	NP_775110.1:p.Pro24SerfsTer9