Canonical Allele Identifier: CA2573053997

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1180794
• ClinVar RCV Id: RCV001814523
• dbSNP Id: rs2141167797

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388984del , CM000677.2:g.42388984del	GRCh38
NC_000015.9:g.42681182del , CM000677.1:g.42681182del	GRCh37
NC_000015.8:g.40468474del	NCBI36
NG_008660.1:g.45882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.689del	ENSP00000183936.4:p.Asp230AlafsTer23
ENST00000357568.8:c.689del	ENSP00000350181.3:p.Asp230AlafsTer23
ENST00000397163.8:c.689del MANE Select	ENSP00000380349.3:p.Asp230AlafsTer23
ENST00000466369.5:n.1198del
ENST00000483208.5:n.920del
ENST00000495723.1:n.920del
ENST00000549793.5:n.920del
ENST00000638141.2:n.704del
ENST00000673705.1:c.70+4432del	ENSP00000501021.1:n.70+4432del
ENST00000318023.11:c.689del	ENSP00000326281.8:p.Asp230AlafsTer23
ENST00000349748.7:c.689del	ENSP00000183936.4:p.Asp230AlafsTer23
ENST00000357568.7:c.689del	ENSP00000350181.3:p.Asp230AlafsTer23
ENST00000397163.7:c.689del	ENSP00000380349.3:p.Asp230AlafsTer23
NM_000070.2:c.689del	NP_000061.1:p.Asp230AlafsTer23
NM_024344.1:c.689del	NP_077320.1:p.Asp230AlafsTer23
NM_173087.1:c.689del	NP_775110.1:p.Asp230AlafsTer23
NM_000070.3:c.689del MANE Select	NP_000061.1:p.Asp230AlafsTer23
NM_024344.2:c.689del	NP_077320.1:p.Asp230AlafsTer23
NM_173087.2:c.689del	NP_775110.1:p.Asp230AlafsTer23