Canonical Allele Identifier: CA2573054003

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1180680
• ClinVar RCV Id: RCV001814409
• dbSNP Id: rs2141203052

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402890del , CM000677.2:g.42402890del	GRCh38
NC_000015.9:g.42695088del , CM000677.1:g.42695088del	GRCh37
NC_000015.8:g.40482380del	NCBI36
NG_008660.1:g.59788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1489del	ENSP00000183936.4:p.Gln497SerfsTer?
ENST00000357568.8:c.1633del	ENSP00000350181.3:p.Gln545SerfsTer?
ENST00000397163.8:c.1633del MANE Select	ENSP00000380349.3:p.Gln545SerfsTer?
ENST00000466369.5:n.2142del
ENST00000483208.5:n.2522del
ENST00000495723.1:n.2522del
ENST00000549793.5:n.1864del
ENST00000638141.2:n.1504del
ENST00000673646.1:c.97del	ENSP00000501007.1:p.Gln33SerfsTer?
ENST00000673705.1:c.309+3238del	ENSP00000501021.1:n.309+3238del
ENST00000673813.1:n.555del
ENST00000318023.11:c.1489del	ENSP00000326281.8:p.Gln497SerfsTer?
ENST00000349748.7:c.1489del	ENSP00000183936.4:p.Gln497SerfsTer?
ENST00000357568.7:c.1633del	ENSP00000350181.3:p.Gln545SerfsTer?
ENST00000397163.7:c.1633del	ENSP00000380349.3:p.Gln545SerfsTer?
ENST00000397200.8:c.97del	ENSP00000380384.4:p.Gln33SerfsTer?
ENST00000567071.5:c.92del
ENST00000569827.5:c.97del	ENSP00000454379.1:p.Gln33SerfsTer?
NM_000070.2:c.1633del	NP_000061.1:p.Gln545SerfsTer?
NM_024344.1:c.1633del	NP_077320.1:p.Gln545SerfsTer?
NM_173087.1:c.1489del	NP_775110.1:p.Gln497SerfsTer?
NM_173088.1:c.97del	NP_775111.1:p.Gln33SerfsTer?
NM_000070.3:c.1633del MANE Select	NP_000061.1:p.Gln545SerfsTer?
NM_024344.2:c.1633del	NP_077320.1:p.Gln545SerfsTer?
NM_173087.2:c.1489del	NP_775110.1:p.Gln497SerfsTer?
NM_173088.2:c.97del	NP_775111.1:p.Gln33SerfsTer?