Canonical Allele Identifier: CA658824215

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 551927
• ClinVar RCV Id: RCV000667099 ; RCV003472084
• dbSNP Id: rs1555423046
• gnomAD v4: 15-42409944-GAC-G
• MyVariant Identifiers: chr15:g.42409949_42409950del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409949_42409950del , CM000677.2:g.42409949_42409950del	GRCh38
NC_000015.9:g.42702147_42702148del , CM000677.1:g.42702147_42702148del	GRCh37
NC_000015.8:g.40489439_40489440del	NCBI36
NG_008660.1:g.66847_66848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.74_75del	ENSP00000336840.4:p.His25ArgfsTer9
ENST00000349748.8:c.1793_1794del	ENSP00000183936.4:p.His598ArgfsTer9
ENST00000357568.8:c.2051_2052del	ENSP00000350181.3:p.His684ArgfsTer9
ENST00000397163.8:c.2069_2070del MANE Select	ENSP00000380349.3:p.His690ArgfsTer9
ENST00000397204.9:c.74_75del	ENSP00000380387.4:p.His25ArgfsTer9
ENST00000466222.7:n.334_335del
ENST00000466369.5:n.2560_2561del
ENST00000495723.1:n.2940_2941del
ENST00000549793.5:n.2282_2283del
ENST00000562199.2:c.77_78del	ENSP00000501034.1:p.His26ArgfsTer9
ENST00000569136.6:c.74_75del	ENSP00000455254.1:p.His25ArgfsTer9
ENST00000638141.2:n.1808_1809del
ENST00000673646.1:c.633_634del	ENSP00000501007.1:n.633_634del
ENST00000673687.1:n.146_147del
ENST00000673692.1:c.74_75del	ENSP00000501138.1:p.His25ArgfsTer9
ENST00000673705.1:c.464_465del	ENSP00000501021.1:n.464_465del
ENST00000673743.1:c.-29_-28del	ENSP00000500989.1:n.-29_-28del
ENST00000673750.1:c.74_75del	ENSP00000501173.1:p.His25ArgfsTer9
ENST00000673771.1:c.74_75del	ENSP00000501023.1:p.His25ArgfsTer9
ENST00000673774.1:n.770_771del
ENST00000673839.1:c.74_75del	ENSP00000501188.1:p.His25ArgfsTer9
ENST00000673851.1:c.74_75del	ENSP00000501142.1:p.His25ArgfsTer9
ENST00000673854.1:n.5491_5492del
ENST00000673886.1:c.74_75del	ENSP00000501155.1:p.His25ArgfsTer9
ENST00000673890.1:c.74_75del	ENSP00000501293.1:p.His25ArgfsTer9
ENST00000673928.1:c.74_75del	ENSP00000501099.1:p.His25ArgfsTer9
ENST00000673936.1:c.74_75del	ENSP00000501189.1:p.His25ArgfsTer9
ENST00000673939.1:c.74_75del	ENSP00000501129.1:p.His25ArgfsTer9
ENST00000673950.1:n.343_344del
ENST00000673978.1:c.212_213del	ENSP00000500976.1:p.His71ArgfsTer9
ENST00000673987.1:c.74_75del	ENSP00000501231.1:p.His25ArgfsTer9
ENST00000674011.1:c.74_75del	ENSP00000501171.1:p.His25ArgfsTer9
ENST00000674018.1:c.74_75del	ENSP00000501271.1:p.His25ArgfsTer9
ENST00000674027.1:n.129_130del
ENST00000674041.1:c.74_75del	ENSP00000500956.1:p.His25ArgfsTer9
ENST00000674052.1:c.293_294del	ENSP00000501057.1:p.His98ArgfsTer9
ENST00000674093.1:c.74_75del	ENSP00000501303.1:p.His25ArgfsTer9
ENST00000674119.1:c.74_75del	ENSP00000501217.1:p.His25ArgfsTer9
ENST00000674130.1:n.287_288del
ENST00000674135.1:c.251_252del	ENSP00000501178.1:p.His84ArgfsTer9
ENST00000674139.1:c.74_75del	ENSP00000501054.1:p.His25ArgfsTer9
ENST00000674146.1:c.74_75del	ENSP00000501175.1:p.His25ArgfsTer9
ENST00000674149.1:c.74_75del	ENSP00000501112.1:p.His25ArgfsTer9
ENST00000318023.11:c.1925_1926del	ENSP00000326281.8:p.His642ArgfsTer9
ENST00000337571.8:c.74_75del	ENSP00000336840.4:p.His25ArgfsTer9
ENST00000349748.7:c.1793_1794del	ENSP00000183936.4:p.His598ArgfsTer9
ENST00000356316.7:c.74_75del	ENSP00000348667.4:p.His25ArgfsTer9
ENST00000357568.7:c.2051_2052del	ENSP00000350181.3:p.His684ArgfsTer9
ENST00000397163.7:c.2069_2070del	ENSP00000380349.3:p.His690ArgfsTer9
ENST00000397200.8:c.533_534del	ENSP00000380384.4:p.His178ArgfsTer9
ENST00000397204.8:c.74_75del	ENSP00000380387.4:p.His25ArgfsTer9
ENST00000466222.6:n.992_993del
ENST00000561817.5:c.74_75del	ENSP00000456575.1:p.His25ArgfsTer9
ENST00000562199.1:n.77_78del
ENST00000564503.5:c.166_167del
ENST00000565274.5:c.281_282del	ENSP00000457759.1:p.His94ArgfsTer9
ENST00000565559.5:c.251_252del	ENSP00000457878.1:p.His84ArgfsTer9
ENST00000567071.5:c.549_550del
ENST00000569136.5:c.74_75del	ENSP00000455254.1:p.His25ArgfsTer9
ENST00000569827.5:c.401_402del	ENSP00000454379.1:p.His134ArgfsTer9
NM_000070.2:c.2069_2070del	NP_000061.1:p.His690ArgfsTer9
NM_024344.1:c.2051_2052del	NP_077320.1:p.His684ArgfsTer9
NM_173087.1:c.1793_1794del	NP_775110.1:p.His598ArgfsTer9
NM_173088.1:c.533_534del	NP_775111.1:p.His178ArgfsTer9
NM_173089.1:c.74_75del	NP_775112.1:p.His25ArgfsTer9
NM_173090.1:c.74_75del	NP_775113.1:p.His25ArgfsTer9
NM_000070.3:c.2069_2070del MANE Select	NP_000061.1:p.His690ArgfsTer9
NM_024344.2:c.2051_2052del	NP_077320.1:p.His684ArgfsTer9
NM_173087.2:c.1793_1794del	NP_775110.1:p.His598ArgfsTer9
NM_173088.2:c.533_534del	NP_775111.1:p.His178ArgfsTer9
NM_173089.2:c.74_75del	NP_775112.1:p.His25ArgfsTer9
NM_173090.2:c.74_75del	NP_775113.1:p.His25ArgfsTer9