Canonical Allele Identifier: CA10605844

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 287712
• ClinVar RCV Id: RCV000275896
• dbSNP Id: rs886043705
• gnomAD v2: 15-42693854-AC-A
• gnomAD v4: 15-42401656-AC-A
• MyVariant Identifiers: chr15:g.42693857del (hg19) ; chr15:g.42693855del (hg19) ; chr15:g.42401659del (hg38) ; chr15:g.42401657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401659del , CM000677.2:g.42401659del	GRCh38
NC_000015.9:g.42693857del , CM000677.1:g.42693857del	GRCh37
NC_000015.8:g.40481149del	NCBI36
NG_008660.1:g.58557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.1229del	ENSP00000183936.4:p.Pro410LeufsTer5
ENST00000357568.8:c.1373del	ENSP00000350181.3:p.Pro458LeufsTer5
ENST00000397163.8:c.1373del MANE Select	ENSP00000380349.3:p.Pro458LeufsTer5
ENST00000466369.5:n.1882del
ENST00000483208.5:n.1604del
ENST00000495723.1:n.1604del
ENST00000549793.5:n.1604del
ENST00000638141.2:n.1244del
ENST00000673705.1:c.309+2007del	ENSP00000501021.1:n.309+2007del
ENST00000318023.11:c.1229del	ENSP00000326281.8:p.Pro410LeufsTer5
ENST00000349748.7:c.1229del	ENSP00000183936.4:p.Pro410LeufsTer5
ENST00000357568.7:c.1373del	ENSP00000350181.3:p.Pro458LeufsTer5
ENST00000397163.7:c.1373del	ENSP00000380349.3:p.Pro458LeufsTer5
NM_000070.2:c.1373del	NP_000061.1:p.Pro458LeufsTer5
NM_024344.1:c.1373del	NP_077320.1:p.Pro458LeufsTer5
NM_173087.1:c.1229del	NP_775110.1:p.Pro410LeufsTer5
NM_000070.3:c.1373del MANE Select	NP_000061.1:p.Pro458LeufsTer5
NM_024344.2:c.1373del	NP_077320.1:p.Pro458LeufsTer5
NM_173087.2:c.1229del	NP_775110.1:p.Pro410LeufsTer5