Canonical Allele Identifier: CA2628033052
Community Standard Title: NM_000070.3(CAPN3):c.1792_1795del (p.Lys598ProfsTer?)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42405935_42405938del , CM000677.2:g.42405935_42405938del GRCh38
NC_000015.9:g.42698133_42698136del , CM000677.1:g.42698133_42698136del GRCh37
NC_000015.8:g.40485425_40485428del NCBI36
NG_008660.1:g.62833_62836del

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.1792_1795del MANE Select NP_000061.1:p.Lys598ProfsTer?
ENST00000397163.8:c.1792_1795del MANE Select ENSP00000380349.3:p.Lys598ProfsTer?
NM_000070.2:c.1792_1795del NP_000061.1:p.Lys598ProfsTer?
NM_024344.1:c.1782+2158_1782+2161del NP_077320.1:n.1782+2158_1782+2161del
NM_024344.2:c.1782+2158_1782+2161del NP_077320.1:n.1782+2158_1782+2161del
NM_173087.1:c.1638+2158_1638+2161del NP_775110.1:n.1638+2158_1638+2161del
NM_173087.2:c.1638+2158_1638+2161del NP_775110.1:n.1638+2158_1638+2161del
NM_173088.1:c.256_259del NP_775111.1:p.Lys86ProfsTer?
NM_173088.2:c.256_259del NP_775111.1:p.Lys86ProfsTer?
NM_173089.1:c.-82+980_-82+983del NP_775112.1:n.-82+980_-82+983del
NM_173089.2:c.-82+980_-82+983del NP_775112.1:n.-82+980_-82+983del
NM_173090.1:c.-90_-87del NP_775113.1:n.-90_-87del
NM_173090.2:c.-90_-87del NP_775113.1:n.-90_-87del
ENST00000318023.11:c.1648_1651del ENSP00000326281.8:p.Lys550ProfsTer?
ENST00000337571.8:c.-82+980_-82+983del ENSP00000336840.4:n.-82+980_-82+983del
ENST00000337571.9:c.-82+967_-82+970del ENSP00000336840.4:n.-82+967_-82+970del
ENST00000349748.7:c.1638+2158_1638+2161del ENSP00000183936.4:n.1638+2158_1638+2161del
ENST00000349748.8:c.1638+2158_1638+2161del ENSP00000183936.4:n.1638+2158_1638+2161del
ENST00000356316.7:c.-91+971_-91+974del ENSP00000348667.4:n.-91+971_-91+974del
ENST00000357568.7:c.1782+2158_1782+2161del ENSP00000350181.3:n.1782+2158_1782+2161del
ENST00000357568.8:c.1782+2158_1782+2161del ENSP00000350181.3:n.1782+2158_1782+2161del
ENST00000397163.7:c.1792_1795del ENSP00000380349.3:p.Lys598ProfsTer?
ENST00000397200.8:c.256_259del ENSP00000380384.4:p.Lys86ProfsTer?
ENST00000397204.8:c.-90_-87del ENSP00000380387.4:n.-90_-87del
ENST00000397204.9:c.-90_-87del ENSP00000380387.4:n.-90_-87del
ENST00000466369.5:n.2291+2158_2291+2161del
ENST00000495723.1:n.2671+2158_2671+2161del
ENST00000549793.5:n.2013+2158_2013+2161del
ENST00000561817.5:c.-82+980_-82+983del ENSP00000456575.1:n.-82+980_-82+983del
ENST00000565173.1:n.129+980_129+983del
ENST00000565173.2:n.174+980_174+983del
ENST00000565274.5:c.4_7del ENSP00000457759.1:p.Lys2ProfsTer?
ENST00000565559.5:c.-140_-137del ENSP00000457878.1:n.-140_-137del
ENST00000567071.5:c.251_254del
ENST00000569136.5:c.-204_-201del ENSP00000455254.1:n.-204_-201del
ENST00000569136.6:c.-204_-201del ENSP00000455254.1:n.-204_-201del
ENST00000569827.5:c.246+2158_246+2161del ENSP00000454379.1:n.246+2158_246+2161del
ENST00000638141.2:n.1653+2158_1653+2161del
ENST00000673646.1:c.356_359del ENSP00000501007.1:n.356_359del
ENST00000673692.1:c.-4+1084_-4+1087del ENSP00000501138.1:n.-4+1084_-4+1087del
ENST00000673705.1:c.310-3368_310-3365del ENSP00000501021.1:n.310-3368_310-3365del
ENST00000673743.1:c.-437+980_-437+983del ENSP00000500989.1:n.-437+980_-437+983del
ENST00000673750.1:c.-2471_-2468del ENSP00000501173.1:n.-2471_-2468del
ENST00000673771.1:c.-196+967_-196+970del ENSP00000501023.1:n.-196+967_-196+970del
ENST00000673839.1:c.-340+980_-340+983del ENSP00000501188.1:n.-340+980_-340+983del
ENST00000673851.1:c.-548_-545del ENSP00000501142.1:n.-548_-545del
ENST00000673854.1:n.1969_1972del
ENST00000673886.1:c.-928-762_-928-759del ENSP00000501155.1:n.-928-762_-928-759del
ENST00000673890.1:c.-196+980_-196+983del ENSP00000501293.1:n.-196+980_-196+983del
ENST00000673928.1:c.-340+980_-340+983del ENSP00000501099.1:n.-340+980_-340+983del
ENST00000673936.1:c.-196+1084_-196+1087del ENSP00000501189.1:n.-196+1084_-196+1087del
ENST00000673939.1:c.-82+980_-82+983del ENSP00000501129.1:n.-82+980_-82+983del
ENST00000673978.1:c.-362+980_-362+983del ENSP00000500976.1:n.-362+980_-362+983del
ENST00000673987.1:c.-204_-201del ENSP00000501231.1:n.-204_-201del
ENST00000674011.1:c.-196+980_-196+983del ENSP00000501171.1:n.-196+980_-196+983del
ENST00000674012.1:n.75+967_75+970del
ENST00000674018.1:c.-540+967_-540+970del ENSP00000501271.1:n.-540+967_-540+970del
ENST00000674041.1:c.-82+980_-82+983del ENSP00000500956.1:n.-82+980_-82+983del
ENST00000674052.1:c.16_19del ENSP00000501057.1:p.Lys6ProfsTer?
ENST00000674064.1:n.179+980_179+983del
ENST00000674093.1:c.-82+980_-82+983del ENSP00000501303.1:n.-82+980_-82+983del
ENST00000674119.1:c.-82+1084_-82+1087del ENSP00000501217.1:n.-82+1084_-82+1087del
ENST00000674135.1:c.-132+980_-132+983del ENSP00000501178.1:n.-132+980_-132+983del
ENST00000674139.1:c.-2471_-2468del ENSP00000501054.1:n.-2471_-2468del
ENST00000674146.1:c.-532_-529del ENSP00000501175.1:n.-532_-529del
ENST00000674149.1:c.-524+980_-524+983del ENSP00000501112.1:n.-524+980_-524+983del