Canonical Allele Identifier: CA912980512

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42703152dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410954dup , CM000677.2:g.42410954dup	GRCh38
NC_000015.9:g.42703152dup , CM000677.1:g.42703152dup	GRCh37
NC_000015.8:g.40490444dup	NCBI36
NG_008660.1:g.67852dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.339dup	ENSP00000336840.4:p.Phe114LeufsTer2
ENST00000349748.8:c.2058dup	ENSP00000183936.4:p.Phe687LeufsTer2
ENST00000357568.8:c.2316dup	ENSP00000350181.3:p.Phe773LeufsTer2
ENST00000397163.8:c.2334dup MANE Select	ENSP00000380349.3:p.Phe779LeufsTer2
ENST00000397204.9:c.339dup	ENSP00000380387.4:p.Phe114LeufsTer2
ENST00000466222.7:n.751+28dup
ENST00000466369.5:n.2825dup
ENST00000495723.1:n.3205dup
ENST00000549793.5:n.2547dup
ENST00000562199.2:c.338dup	ENSP00000501034.1:n.338dup
ENST00000567817.6:c.123dup	ENSP00000456514.2:p.Phe42LeufsTer2
ENST00000568153.2:c.200dup
ENST00000569136.6:c.339dup	ENSP00000455254.1:p.Phe114LeufsTer2
ENST00000638141.2:n.2073dup
ENST00000673646.1:c.898dup	ENSP00000501007.1:n.898dup
ENST00000673684.1:n.316dup
ENST00000673692.1:c.339dup	ENSP00000501138.1:p.Phe114LeufsTer2
ENST00000673705.1:c.877dup	ENSP00000501021.1:n.877dup
ENST00000673743.1:c.237dup	ENSP00000500989.1:p.Phe80LeufsTer2
ENST00000673750.1:c.339dup	ENSP00000501173.1:p.Phe114LeufsTer2
ENST00000673771.1:c.339dup	ENSP00000501023.1:p.Phe114LeufsTer2
ENST00000673774.1:n.1467dup
ENST00000673839.1:c.339dup	ENSP00000501188.1:p.Phe114LeufsTer2
ENST00000673851.1:c.339dup	ENSP00000501142.1:p.Phe114LeufsTer2
ENST00000673854.1:n.5756dup
ENST00000673886.1:c.339dup	ENSP00000501155.1:p.Phe114LeufsTer2
ENST00000673890.1:c.339dup	ENSP00000501293.1:p.Phe114LeufsTer2
ENST00000673928.1:c.339dup	ENSP00000501099.1:p.Phe114LeufsTer2
ENST00000673936.1:c.339dup	ENSP00000501189.1:p.Phe114LeufsTer2
ENST00000673939.1:c.*100+28dup	ENSP00000501129.1:n.*100+28dup
ENST00000673950.1:n.608dup
ENST00000673978.1:c.477dup	ENSP00000500976.1:p.Phe160LeufsTer2
ENST00000673987.1:c.*100+28dup	ENSP00000501231.1:n.*100+28dup
ENST00000674011.1:c.*128dup	ENSP00000501171.1:n.*128dup
ENST00000674018.1:c.339dup	ENSP00000501271.1:p.Phe114LeufsTer2
ENST00000674027.1:n.485dup
ENST00000674041.1:c.339dup	ENSP00000500956.1:p.Phe114LeufsTer2
ENST00000674052.1:c.558dup	ENSP00000501057.1:p.Phe187LeufsTer2
ENST00000674093.1:c.339dup	ENSP00000501303.1:p.Phe114LeufsTer2
ENST00000674119.1:c.339dup	ENSP00000501217.1:p.Phe114LeufsTer2
ENST00000674135.1:c.516dup	ENSP00000501178.1:p.Phe173LeufsTer2
ENST00000674139.1:c.339dup	ENSP00000501054.1:p.Phe114LeufsTer2
ENST00000674146.1:c.339dup	ENSP00000501175.1:p.Phe114LeufsTer2
ENST00000674149.1:c.339dup	ENSP00000501112.1:p.Phe114LeufsTer2
ENST00000318023.11:c.2190dup	ENSP00000326281.8:p.Phe731LeufsTer2
ENST00000337571.8:c.339dup	ENSP00000336840.4:p.Phe114LeufsTer2
ENST00000349748.7:c.2058dup	ENSP00000183936.4:p.Phe687LeufsTer2
ENST00000356316.7:c.339dup	ENSP00000348667.4:p.Phe114LeufsTer2
ENST00000357568.7:c.2316dup	ENSP00000350181.3:p.Phe773LeufsTer2
ENST00000397163.7:c.2334dup	ENSP00000380349.3:p.Phe779LeufsTer2
ENST00000397200.8:c.798dup	ENSP00000380384.4:p.Phe267LeufsTer2
ENST00000397204.8:c.339dup	ENSP00000380387.4:p.Phe114LeufsTer2
ENST00000466222.6:n.1257dup
ENST00000561817.5:c.339dup	ENSP00000456575.1:p.Phe114LeufsTer2
ENST00000562199.1:n.338dup
ENST00000564503.5:c.377dup
ENST00000565274.5:c.512dup	ENSP00000457759.1:n.512dup
ENST00000567817.5:c.150dup	ENSP00000456514.1:p.Phe51LeufsTer2
ENST00000568153.1:c.71dup
ENST00000569136.5:c.339dup	ENSP00000455254.1:p.Phe114LeufsTer2
ENST00000569827.5:c.666dup	ENSP00000454379.1:p.Phe223LeufsTer2
NM_000070.2:c.2334dup	NP_000061.1:p.Phe779LeufsTer2
NM_024344.1:c.2316dup	NP_077320.1:p.Phe773LeufsTer2
NM_173087.1:c.2058dup	NP_775110.1:p.Phe687LeufsTer2
NM_173088.1:c.798dup	NP_775111.1:p.Phe267LeufsTer2
NM_173089.1:c.339dup	NP_775112.1:p.Phe114LeufsTer2
NM_173090.1:c.339dup	NP_775113.1:p.Phe114LeufsTer2
NM_000070.3:c.2334dup MANE Select	NP_000061.1:p.Phe779LeufsTer2
NM_024344.2:c.2316dup	NP_077320.1:p.Phe773LeufsTer2
NM_173087.2:c.2058dup	NP_775110.1:p.Phe687LeufsTer2
NM_173088.2:c.798dup	NP_775111.1:p.Phe267LeufsTer2
NM_173089.2:c.339dup	NP_775112.1:p.Phe114LeufsTer2
NM_173090.2:c.339dup	NP_775113.1:p.Phe114LeufsTer2