Canonical Allele Identifier: CA7511816
Community Standard Title: NM_000070.3(CAPN3):c.2279dup (p.Asn760LysfsTer5)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410899dup , CM000677.2:g.42410899dup GRCh38
NC_000015.9:g.42703097dup , CM000677.1:g.42703097dup GRCh37
NC_000015.8:g.40490389dup NCBI36
NG_008660.1:g.67797dup

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.2279dup MANE Select NP_000061.1:p.Asn760LysfsTer5
ENST00000397163.8:c.2279dup MANE Select ENSP00000380349.3:p.Asn760LysfsTer5
NM_000070.2:c.2279dup NP_000061.1:p.Asn760LysfsTer5
NM_024344.1:c.2261dup NP_077320.1:p.Asn754LysfsTer5
NM_024344.2:c.2261dup NP_077320.1:p.Asn754LysfsTer5
NM_173087.1:c.2003dup NP_775110.1:p.Asn668LysfsTer5
NM_173087.2:c.2003dup NP_775110.1:p.Asn668LysfsTer5
NM_173088.1:c.743dup NP_775111.1:p.Asn248LysfsTer5
NM_173088.2:c.743dup NP_775111.1:p.Asn248LysfsTer5
NM_173089.1:c.284dup NP_775112.1:p.Asn95LysfsTer5
NM_173089.2:c.284dup NP_775112.1:p.Asn95LysfsTer5
NM_173090.1:c.284dup NP_775113.1:p.Asn95LysfsTer5
NM_173090.2:c.284dup NP_775113.1:p.Asn95LysfsTer5
ENST00000318023.11:c.2135dup ENSP00000326281.8:p.Asn712LysfsTer5
ENST00000337571.8:c.284dup ENSP00000336840.4:p.Asn95LysfsTer5
ENST00000337571.9:c.284dup ENSP00000336840.4:p.Asn95LysfsTer5
ENST00000349748.7:c.2003dup ENSP00000183936.4:p.Asn668LysfsTer5
ENST00000349748.8:c.2003dup ENSP00000183936.4:p.Asn668LysfsTer5
ENST00000356316.7:c.284dup ENSP00000348667.4:p.Asn95LysfsTer5
ENST00000357568.7:c.2261dup ENSP00000350181.3:p.Asn754LysfsTer5
ENST00000357568.8:c.2261dup ENSP00000350181.3:p.Asn754LysfsTer5
ENST00000397163.7:c.2279dup ENSP00000380349.3:p.Asn760LysfsTer5
ENST00000397200.8:c.743dup ENSP00000380384.4:p.Asn248LysfsTer5
ENST00000397204.8:c.284dup ENSP00000380387.4:p.Asn95LysfsTer5
ENST00000397204.9:c.284dup ENSP00000380387.4:p.Asn95LysfsTer5
ENST00000466222.6:n.1202dup
ENST00000466222.7:n.724dup
ENST00000466369.5:n.2770dup
ENST00000495723.1:n.3150dup
ENST00000549793.5:n.2492dup
ENST00000561817.5:c.284dup ENSP00000456575.1:p.Asn95LysfsTer5
ENST00000562199.1:n.283dup
ENST00000562199.2:c.283dup ENSP00000501034.1:p.Thr95AsnfsTer?
ENST00000564503.5:c.322dup
ENST00000565274.5:c.457dup ENSP00000457759.1:n.457dup
ENST00000565559.5:c.461dup ENSP00000457878.1:p.Asn154LysfsTer5
ENST00000567817.5:c.95dup ENSP00000456514.1:p.Asn32LysfsTer5
ENST00000567817.6:c.68dup ENSP00000456514.2:p.Asn23LysfsTer5
ENST00000568153.1:c.16dup
ENST00000568153.2:c.145dup
ENST00000569136.5:c.284dup ENSP00000455254.1:p.Asn95LysfsTer5
ENST00000569136.6:c.284dup ENSP00000455254.1:p.Asn95LysfsTer5
ENST00000569827.5:c.611dup ENSP00000454379.1:p.Asn204LysfsTer5
ENST00000638141.2:n.2018dup
ENST00000673646.1:c.843dup ENSP00000501007.1:n.843dup
ENST00000673684.1:n.261dup
ENST00000673692.1:c.284dup ENSP00000501138.1:p.Asn95LysfsTer5
ENST00000673705.1:c.822dup ENSP00000501021.1:n.822dup
ENST00000673743.1:c.182dup ENSP00000500989.1:p.Asn61LysfsTer5
ENST00000673750.1:c.284dup ENSP00000501173.1:p.Asn95LysfsTer5
ENST00000673771.1:c.284dup ENSP00000501023.1:p.Asn95LysfsTer5
ENST00000673774.1:n.1412dup
ENST00000673839.1:c.284dup ENSP00000501188.1:p.Asn95LysfsTer5
ENST00000673851.1:c.284dup ENSP00000501142.1:p.Asn95LysfsTer5
ENST00000673854.1:n.5701dup
ENST00000673886.1:c.284dup ENSP00000501155.1:p.Asn95LysfsTer5
ENST00000673890.1:c.284dup ENSP00000501293.1:p.Asn95LysfsTer5
ENST00000673928.1:c.284dup ENSP00000501099.1:p.Asn95LysfsTer5
ENST00000673936.1:c.284dup ENSP00000501189.1:p.Asn95LysfsTer5
ENST00000673939.1:c.*73dup ENSP00000501129.1:n.*73dup
ENST00000673950.1:n.553dup
ENST00000673978.1:c.422dup ENSP00000500976.1:p.Asn141LysfsTer5
ENST00000673987.1:c.*73dup ENSP00000501231.1:n.*73dup
ENST00000674011.1:c.*73dup ENSP00000501171.1:n.*73dup
ENST00000674018.1:c.284dup ENSP00000501271.1:p.Asn95LysfsTer5
ENST00000674027.1:n.430dup
ENST00000674041.1:c.284dup ENSP00000500956.1:p.Asn95LysfsTer5
ENST00000674052.1:c.503dup ENSP00000501057.1:p.Asn168LysfsTer5
ENST00000674093.1:c.284dup ENSP00000501303.1:p.Asn95LysfsTer5
ENST00000674119.1:c.284dup ENSP00000501217.1:p.Asn95LysfsTer5
ENST00000674135.1:c.461dup ENSP00000501178.1:p.Asn154LysfsTer5
ENST00000674139.1:c.284dup ENSP00000501054.1:p.Asn95LysfsTer5
ENST00000674146.1:c.284dup ENSP00000501175.1:p.Asn95LysfsTer5
ENST00000674149.1:c.284dup ENSP00000501112.1:p.Asn95LysfsTer5