Canonical Allele Identifier: CA658798310

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 536516
• ClinVar RCV Id: RCV000644986 ; RCV003459541
• dbSNP Id: rs1555420642

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389022_42389025delinsAT , CM000677.2:g.42389022_42389025delinsAT	GRCh38
NC_000015.9:g.42681220_42681223delinsAT , CM000677.1:g.42681220_42681223delinsAT	GRCh37
NC_000015.8:g.40468512_40468515delinsAT	NCBI36
NG_008660.1:g.45920_45923delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.727_730delinsAT	ENSP00000183936.4:p.Asp243IlefsTer3
ENST00000357568.8:c.727_730delinsAT	ENSP00000350181.3:p.Asp243IlefsTer3
ENST00000397163.8:c.727_730delinsAT MANE Select	ENSP00000380349.3:p.Asp243IlefsTer3
ENST00000466369.5:n.1236_1239delinsAT
ENST00000483208.5:n.958_961delinsAT
ENST00000495723.1:n.958_961delinsAT
ENST00000549793.5:n.958_961delinsAT
ENST00000638141.2:n.742_745delinsAT
ENST00000673705.1:c.70+4470_70+4473delinsAT	ENSP00000501021.1:n.70+4470_70+4473delinsAT
ENST00000318023.11:c.727_730delinsAT	ENSP00000326281.8:p.Asp243IlefsTer3
ENST00000349748.7:c.727_730delinsAT	ENSP00000183936.4:p.Asp243IlefsTer3
ENST00000357568.7:c.727_730delinsAT	ENSP00000350181.3:p.Asp243IlefsTer3
ENST00000397163.7:c.727_730delinsAT	ENSP00000380349.3:p.Asp243IlefsTer3
NM_000070.2:c.727_730delinsAT	NP_000061.1:p.Asp243IlefsTer3
NM_024344.1:c.727_730delinsAT	NP_077320.1:p.Asp243IlefsTer3
NM_173087.1:c.727_730delinsAT	NP_775110.1:p.Asp243IlefsTer3
NM_000070.3:c.727_730delinsAT MANE Select	NP_000061.1:p.Asp243IlefsTer3
NM_024344.2:c.727_730delinsAT	NP_077320.1:p.Asp243IlefsTer3
NM_173087.2:c.727_730delinsAT	NP_775110.1:p.Asp243IlefsTer3