Canonical Allele Identifier: CA2580613796

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1074226
• ClinVar RCV Id: RCV001387451
• dbSNP Id: rs2141203435

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402997_42403000del , CM000677.2:g.42402997_42403000del	GRCh38
NC_000015.9:g.42695195_42695198del , CM000677.1:g.42695195_42695198del	GRCh37
NC_000015.8:g.40482487_40482490del	NCBI36
NG_008660.1:g.59895_59898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1596_1599del	ENSP00000183936.4:p.Ser533ArgfsTer?
ENST00000357568.8:c.1740_1743del	ENSP00000350181.3:p.Ser581ArgfsTer?
ENST00000397163.8:c.1740_1743del MANE Select	ENSP00000380349.3:p.Ser581ArgfsTer13
ENST00000466369.5:n.2249_2252del
ENST00000483208.5:n.2629_2632del
ENST00000495723.1:n.2629_2632del
ENST00000549793.5:n.1971_1974del
ENST00000638141.2:n.1611_1614del
ENST00000673646.1:c.204_207del	ENSP00000501007.1:p.Ser69ArgfsTer?
ENST00000673705.1:c.309+3345_309+3348del	ENSP00000501021.1:n.309+3345_309+3348del
ENST00000673813.1:n.580+82_580+85del
ENST00000318023.11:c.1596_1599del	ENSP00000326281.8:p.Ser533ArgfsTer13
ENST00000349748.7:c.1596_1599del	ENSP00000183936.4:p.Ser533ArgfsTer?
ENST00000357568.7:c.1740_1743del	ENSP00000350181.3:p.Ser581ArgfsTer?
ENST00000397163.7:c.1740_1743del	ENSP00000380349.3:p.Ser581ArgfsTer13
ENST00000397200.8:c.204_207del	ENSP00000380384.4:p.Ser69ArgfsTer13
ENST00000567071.5:c.199_202del
ENST00000569827.5:c.204_207del	ENSP00000454379.1:p.Ser69ArgfsTer?
NM_000070.2:c.1740_1743del	NP_000061.1:p.Ser581ArgfsTer13
NM_024344.1:c.1740_1743del	NP_077320.1:p.Ser581ArgfsTer?
NM_173087.1:c.1596_1599del	NP_775110.1:p.Ser533ArgfsTer?
NM_173088.1:c.204_207del	NP_775111.1:p.Ser69ArgfsTer13
NM_000070.3:c.1740_1743del MANE Select	NP_000061.1:p.Ser581ArgfsTer13
NM_024344.2:c.1740_1743del	NP_077320.1:p.Ser581ArgfsTer?
NM_173087.2:c.1596_1599del	NP_775110.1:p.Ser533ArgfsTer?
NM_173088.2:c.204_207del	NP_775111.1:p.Ser69ArgfsTer13