Canonical Allele Identifier: CA220347
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 92412
ClinVar RCV Id: RCV000176143
dbSNP Id: rs398123147

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410654_42410657dup , CM000677.2:g.42410654_42410657dup GRCh38
NC_000015.9:g.42702852_42702855dup , CM000677.1:g.42702852_42702855dup GRCh37
NC_000015.8:g.40490144_40490147dup NCBI36
NG_008660.1:g.67552_67555dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000337571.9:c.256_259dup ENSP00000336840.4:p.Asn87SerfsTer14
ENST00000349748.8:c.1975_1978dup ENSP00000183936.4:p.Asn660SerfsTer14
ENST00000357568.8:c.2233_2236dup ENSP00000350181.3:p.Asn746SerfsTer14
ENST00000397163.8:c.2251_2254dup MANE Select ENSP00000380349.3:p.Asn752SerfsTer14
ENST00000397204.9:c.256_259dup ENSP00000380387.4:p.Asn87SerfsTer14
ENST00000466222.7:n.607_610dup
ENST00000466369.5:n.2742_2745dup
ENST00000495723.1:n.3122_3125dup
ENST00000549793.5:n.2464_2467dup
ENST00000562199.2:c.255_258dup ENSP00000501034.1:p.Thr87ValfsTer?
ENST00000567817.6:c.40_43dup ENSP00000456514.2:p.Asn15SerfsTer14
ENST00000568153.2:c.117_120dup
ENST00000569136.6:c.256_259dup ENSP00000455254.1:p.Asn87SerfsTer14
ENST00000638141.2:n.1990_1993dup
ENST00000673646.1:c.815_818dup ENSP00000501007.1:n.815_818dup
ENST00000673684.1:n.233_236dup
ENST00000673687.1:n.851_854dup
ENST00000673692.1:c.256_259dup ENSP00000501138.1:p.Asn87SerfsTer14
ENST00000673705.1:c.577_580dup ENSP00000501021.1:n.577_580dup
ENST00000673743.1:c.154_157dup ENSP00000500989.1:p.Asn53SerfsTer14
ENST00000673750.1:c.256_259dup ENSP00000501173.1:p.Asn87SerfsTer14
ENST00000673771.1:c.256_259dup ENSP00000501023.1:p.Asn87SerfsTer14
ENST00000673774.1:n.1384_1387dup
ENST00000673839.1:c.256_259dup ENSP00000501188.1:p.Asn87SerfsTer14
ENST00000673851.1:c.256_259dup ENSP00000501142.1:p.Asn87SerfsTer14
ENST00000673854.1:n.5673_5676dup
ENST00000673886.1:c.256_259dup ENSP00000501155.1:p.Asn87SerfsTer14
ENST00000673890.1:c.256_259dup ENSP00000501293.1:p.Asn87SerfsTer14
ENST00000673928.1:c.256_259dup ENSP00000501099.1:p.Asn87SerfsTer14
ENST00000673936.1:c.256_259dup ENSP00000501189.1:p.Asn87SerfsTer14
ENST00000673939.1:c.256_259dup ENSP00000501129.1:p.Asn87SerfsTer?
ENST00000673950.1:n.525_528dup
ENST00000673978.1:c.394_397dup ENSP00000500976.1:p.Asn133SerfsTer14
ENST00000673987.1:c.256_259dup ENSP00000501231.1:p.Asn87SerfsTer?
ENST00000674011.1:c.256_259dup ENSP00000501171.1:p.Asn87SerfsTer?
ENST00000674018.1:c.256_259dup ENSP00000501271.1:p.Asn87SerfsTer14
ENST00000674027.1:n.402_405dup
ENST00000674041.1:c.256_259dup ENSP00000500956.1:p.Asn87SerfsTer14
ENST00000674052.1:c.475_478dup ENSP00000501057.1:p.Asn160SerfsTer14
ENST00000674093.1:c.256_259dup ENSP00000501303.1:p.Asn87SerfsTer14
ENST00000674119.1:c.256_259dup ENSP00000501217.1:p.Asn87SerfsTer14
ENST00000674135.1:c.433_436dup ENSP00000501178.1:p.Asn146SerfsTer14
ENST00000674139.1:c.256_259dup ENSP00000501054.1:p.Asn87SerfsTer14
ENST00000674146.1:c.256_259dup ENSP00000501175.1:p.Asn87SerfsTer14
ENST00000674149.1:c.256_259dup ENSP00000501112.1:p.Asn87SerfsTer14
ENST00000318023.11:c.2107_2110dup ENSP00000326281.8:p.Asn704SerfsTer14
ENST00000337571.8:c.256_259dup ENSP00000336840.4:p.Asn87SerfsTer14
ENST00000349748.7:c.1975_1978dup ENSP00000183936.4:p.Asn660SerfsTer14
ENST00000356316.7:c.256_259dup ENSP00000348667.4:p.Asn87SerfsTer14
ENST00000357568.7:c.2233_2236dup ENSP00000350181.3:p.Asn746SerfsTer14
ENST00000397163.7:c.2251_2254dup ENSP00000380349.3:p.Asn752SerfsTer14
ENST00000397200.8:c.715_718dup ENSP00000380384.4:p.Asn240SerfsTer14
ENST00000397204.8:c.256_259dup ENSP00000380387.4:p.Asn87SerfsTer14
ENST00000466222.6:n.1174_1177dup
ENST00000561817.5:c.256_259dup ENSP00000456575.1:p.Asn87SerfsTer14
ENST00000562199.1:n.255_258dup
ENST00000564503.5:c.294_297dup
ENST00000565274.5:c.429_432dup ENSP00000457759.1:n.429_432dup
ENST00000565559.5:c.433_436dup ENSP00000457878.1:p.Asn146SerfsTer14
ENST00000567817.5:c.67_70dup ENSP00000456514.1:p.Asn24SerfsTer14
ENST00000569136.5:c.256_259dup ENSP00000455254.1:p.Asn87SerfsTer14
ENST00000569827.5:c.583_586dup ENSP00000454379.1:p.Asn196SerfsTer14
NM_000070.2:c.2251_2254dup NP_000061.1:p.Asn752SerfsTer14
NM_024344.1:c.2233_2236dup NP_077320.1:p.Asn746SerfsTer14
NM_173087.1:c.1975_1978dup NP_775110.1:p.Asn660SerfsTer14
NM_173088.1:c.715_718dup NP_775111.1:p.Asn240SerfsTer14
NM_173089.1:c.256_259dup NP_775112.1:p.Asn87SerfsTer14
NM_173090.1:c.256_259dup NP_775113.1:p.Asn87SerfsTer14
NM_000070.3:c.2251_2254dup MANE Select NP_000061.1:p.Asn752SerfsTer14
NM_024344.2:c.2233_2236dup NP_077320.1:p.Asn746SerfsTer14
NM_173087.2:c.1975_1978dup NP_775110.1:p.Asn660SerfsTer14
NM_173088.2:c.715_718dup NP_775111.1:p.Asn240SerfsTer14
NM_173089.2:c.256_259dup NP_775112.1:p.Asn87SerfsTer14
NM_173090.2:c.256_259dup NP_775113.1:p.Asn87SerfsTer14