Canonical Allele Identifier: CA2172719082

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2680381
• ClinVar RCV Id: RCV003460318 ; RCV003517506
• dbSNP Id: rs2053877613
• gnomAD v4: 15-42401754-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401756del , CM000677.2:g.42401756del	GRCh38
NC_000015.9:g.42693954del , CM000677.1:g.42693954del	GRCh37
NC_000015.8:g.40481246del	NCBI36
NG_008660.1:g.58654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1326del	ENSP00000183936.4:p.Lys443ArgfsTer5
ENST00000357568.8:c.1470del	ENSP00000350181.3:p.Lys491ArgfsTer5
ENST00000397163.8:c.1470del MANE Select	ENSP00000380349.3:p.Lys491ArgfsTer5
ENST00000466369.5:n.1979del
ENST00000483208.5:n.1701del
ENST00000495723.1:n.1701del
ENST00000549793.5:n.1701del
ENST00000638141.2:n.1341del
ENST00000673705.1:c.309+2104del	ENSP00000501021.1:n.309+2104del
ENST00000318023.11:c.1326del	ENSP00000326281.8:p.Lys443ArgfsTer5
ENST00000349748.7:c.1326del	ENSP00000183936.4:p.Lys443ArgfsTer5
ENST00000357568.7:c.1470del	ENSP00000350181.3:p.Lys491ArgfsTer5
ENST00000397163.7:c.1470del	ENSP00000380349.3:p.Lys491ArgfsTer5
NM_000070.2:c.1470del	NP_000061.1:p.Lys491ArgfsTer5
NM_024344.1:c.1470del	NP_077320.1:p.Lys491ArgfsTer5
NM_173087.1:c.1326del	NP_775110.1:p.Lys443ArgfsTer5
NM_000070.3:c.1470del MANE Select	NP_000061.1:p.Lys491ArgfsTer5
NM_024344.2:c.1470del	NP_077320.1:p.Lys491ArgfsTer5
NM_173087.2:c.1326del	NP_775110.1:p.Lys443ArgfsTer5