Canonical Allele Identifier: CA919540385

Gene: CAPN3

Linked Data

• dbSNP Id: rs1566980410

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401754_42401755del , CM000677.2:g.42401754_42401755del	GRCh38
NC_000015.9:g.42693952_42693953del , CM000677.1:g.42693952_42693953del	GRCh37
NC_000015.8:g.40481244_40481245del	NCBI36
NG_008660.1:g.58652_58653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1324_1325del	ENSP00000183936.4:p.Arg442GlufsTer?
ENST00000357568.8:c.1468_1469del	ENSP00000350181.3:p.Arg490GlufsTer?
ENST00000397163.8:c.1468_1469del MANE Select	ENSP00000380349.3:p.Arg490GlufsTer?
ENST00000466369.5:n.1977_1978del
ENST00000483208.5:n.1699_1700del
ENST00000495723.1:n.1699_1700del
ENST00000549793.5:n.1699_1700del
ENST00000638141.2:n.1339_1340del
ENST00000673705.1:c.309+2102_309+2103del	ENSP00000501021.1:n.309+2102_309+2103del
ENST00000318023.11:c.1324_1325del	ENSP00000326281.8:p.Arg442GlufsTer?
ENST00000349748.7:c.1324_1325del	ENSP00000183936.4:p.Arg442GlufsTer?
ENST00000357568.7:c.1468_1469del	ENSP00000350181.3:p.Arg490GlufsTer?
ENST00000397163.7:c.1468_1469del	ENSP00000380349.3:p.Arg490GlufsTer?
NM_000070.2:c.1468_1469del	NP_000061.1:p.Arg490GlufsTer?
NM_024344.1:c.1468_1469del	NP_077320.1:p.Arg490GlufsTer?
NM_173087.1:c.1324_1325del	NP_775110.1:p.Arg442GlufsTer?
NM_000070.3:c.1468_1469del MANE Select	NP_000061.1:p.Arg490GlufsTer?
NM_024344.2:c.1468_1469del	NP_077320.1:p.Arg490GlufsTer?
NM_173087.2:c.1324_1325del	NP_775110.1:p.Arg442GlufsTer?