Canonical Allele Identifier: CA2580089415

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1701253
• ClinVar RCV Id: RCV002276010
• dbSNP Id: rs2141199752

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401755delinsTC , CM000677.2:g.42401755delinsTC	GRCh38
NC_000015.9:g.42693953delinsTC , CM000677.1:g.42693953delinsTC	GRCh37
NC_000015.8:g.40481245delinsTC	NCBI36
NG_008660.1:g.58653delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.1325delinsTC	ENSP00000183936.4:p.Arg442LeufsTer?
ENST00000357568.8:c.1469delinsTC	ENSP00000350181.3:p.Arg490LeufsTer?
ENST00000397163.8:c.1469delinsTC MANE Select	ENSP00000380349.3:p.Arg490LeufsTer?
ENST00000466369.5:n.1978delinsTC
ENST00000483208.5:n.1700delinsTC
ENST00000495723.1:n.1700delinsTC
ENST00000549793.5:n.1700delinsTC
ENST00000638141.2:n.1340delinsTC
ENST00000673705.1:c.309+2103delinsTC	ENSP00000501021.1:n.309+2103delinsTC
ENST00000318023.11:c.1325delinsTC	ENSP00000326281.8:p.Arg442LeufsTer?
ENST00000349748.7:c.1325delinsTC	ENSP00000183936.4:p.Arg442LeufsTer?
ENST00000357568.7:c.1469delinsTC	ENSP00000350181.3:p.Arg490LeufsTer?
ENST00000397163.7:c.1469delinsTC	ENSP00000380349.3:p.Arg490LeufsTer?
NM_000070.2:c.1469delinsTC	NP_000061.1:p.Arg490LeufsTer?
NM_024344.1:c.1469delinsTC	NP_077320.1:p.Arg490LeufsTer?
NM_173087.1:c.1325delinsTC	NP_775110.1:p.Arg442LeufsTer?
NM_000070.3:c.1469delinsTC MANE Select	NP_000061.1:p.Arg490LeufsTer?
NM_024344.2:c.1469delinsTC	NP_077320.1:p.Arg490LeufsTer?
NM_173087.2:c.1325delinsTC	NP_775110.1:p.Arg442LeufsTer?