Canonical Allele Identifier: CA2582342612

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2585367
• ClinVar RCV Id: RCV003337983

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410953_42410956dup , CM000677.2:g.42410953_42410956dup	GRCh38
NC_000015.9:g.42703151_42703154dup , CM000677.1:g.42703151_42703154dup	GRCh37
NC_000015.8:g.40490443_40490446dup	NCBI36
NG_008660.1:g.67851_67854dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.338_341dup	ENSP00000336840.4:p.Phe114LeufsTer3
ENST00000349748.8:c.2057_2060dup	ENSP00000183936.4:p.Phe687LeufsTer3
ENST00000357568.8:c.2315_2318dup	ENSP00000350181.3:p.Phe773LeufsTer3
ENST00000397163.8:c.2333_2336dup MANE Select	ENSP00000380349.3:p.Phe779LeufsTer3
ENST00000397204.9:c.338_341dup	ENSP00000380387.4:p.Phe114LeufsTer3
ENST00000466222.7:n.751+27_751+30dup
ENST00000466369.5:n.2824_2827dup
ENST00000495723.1:n.3204_3207dup
ENST00000549793.5:n.2546_2549dup
ENST00000562199.2:c.337_340dup	ENSP00000501034.1:n.337_340dup
ENST00000567817.6:c.122_125dup	ENSP00000456514.2:p.Phe42LeufsTer3
ENST00000568153.2:c.199_202dup
ENST00000569136.6:c.338_341dup	ENSP00000455254.1:p.Phe114LeufsTer3
ENST00000638141.2:n.2072_2075dup
ENST00000673646.1:c.897_900dup	ENSP00000501007.1:n.897_900dup
ENST00000673684.1:n.315_318dup
ENST00000673692.1:c.338_341dup	ENSP00000501138.1:p.Phe114LeufsTer3
ENST00000673705.1:c.876_879dup	ENSP00000501021.1:n.876_879dup
ENST00000673743.1:c.236_239dup	ENSP00000500989.1:p.Phe80LeufsTer3
ENST00000673750.1:c.338_341dup	ENSP00000501173.1:p.Phe114LeufsTer3
ENST00000673771.1:c.338_341dup	ENSP00000501023.1:p.Phe114LeufsTer3
ENST00000673774.1:n.1466_1469dup
ENST00000673839.1:c.338_341dup	ENSP00000501188.1:p.Phe114LeufsTer3
ENST00000673851.1:c.338_341dup	ENSP00000501142.1:p.Phe114LeufsTer3
ENST00000673854.1:n.5755_5758dup
ENST00000673886.1:c.338_341dup	ENSP00000501155.1:p.Phe114LeufsTer3
ENST00000673890.1:c.338_341dup	ENSP00000501293.1:p.Phe114LeufsTer3
ENST00000673928.1:c.338_341dup	ENSP00000501099.1:p.Phe114LeufsTer3
ENST00000673936.1:c.338_341dup	ENSP00000501189.1:p.Phe114LeufsTer3
ENST00000673939.1:c.*100+27_*100+30dup	ENSP00000501129.1:n.*100+27_*100+30dup
ENST00000673950.1:n.607_610dup
ENST00000673978.1:c.476_479dup	ENSP00000500976.1:p.Phe160LeufsTer3
ENST00000673987.1:c.*100+27_*100+30dup	ENSP00000501231.1:n.*100+27_*100+30dup
ENST00000674011.1:c.*127_*130dup	ENSP00000501171.1:n.*127_*130dup
ENST00000674018.1:c.338_341dup	ENSP00000501271.1:p.Phe114LeufsTer3
ENST00000674027.1:n.484_487dup
ENST00000674041.1:c.338_341dup	ENSP00000500956.1:p.Phe114LeufsTer3
ENST00000674052.1:c.557_560dup	ENSP00000501057.1:p.Phe187LeufsTer3
ENST00000674093.1:c.338_341dup	ENSP00000501303.1:p.Phe114LeufsTer3
ENST00000674119.1:c.338_341dup	ENSP00000501217.1:p.Phe114LeufsTer3
ENST00000674135.1:c.515_518dup	ENSP00000501178.1:p.Phe173LeufsTer3
ENST00000674139.1:c.338_341dup	ENSP00000501054.1:p.Phe114LeufsTer3
ENST00000674146.1:c.338_341dup	ENSP00000501175.1:p.Phe114LeufsTer3
ENST00000674149.1:c.338_341dup	ENSP00000501112.1:p.Phe114LeufsTer3
ENST00000318023.11:c.2189_2192dup	ENSP00000326281.8:p.Phe731LeufsTer3
ENST00000337571.8:c.338_341dup	ENSP00000336840.4:p.Phe114LeufsTer3
ENST00000349748.7:c.2057_2060dup	ENSP00000183936.4:p.Phe687LeufsTer3
ENST00000356316.7:c.338_341dup	ENSP00000348667.4:p.Phe114LeufsTer3
ENST00000357568.7:c.2315_2318dup	ENSP00000350181.3:p.Phe773LeufsTer3
ENST00000397163.7:c.2333_2336dup	ENSP00000380349.3:p.Phe779LeufsTer3
ENST00000397200.8:c.797_800dup	ENSP00000380384.4:p.Phe267LeufsTer3
ENST00000397204.8:c.338_341dup	ENSP00000380387.4:p.Phe114LeufsTer3
ENST00000466222.6:n.1256_1259dup
ENST00000561817.5:c.338_341dup	ENSP00000456575.1:p.Phe114LeufsTer3
ENST00000562199.1:n.337_340dup
ENST00000564503.5:c.376_379dup
ENST00000565274.5:c.511_514dup	ENSP00000457759.1:n.511_514dup
ENST00000567817.5:c.149_152dup	ENSP00000456514.1:p.Phe51LeufsTer3
ENST00000568153.1:c.70_73dup
ENST00000569136.5:c.338_341dup	ENSP00000455254.1:p.Phe114LeufsTer3
ENST00000569827.5:c.665_668dup	ENSP00000454379.1:p.Phe223LeufsTer3
NM_000070.2:c.2333_2336dup	NP_000061.1:p.Phe779LeufsTer3
NM_024344.1:c.2315_2318dup	NP_077320.1:p.Phe773LeufsTer3
NM_173087.1:c.2057_2060dup	NP_775110.1:p.Phe687LeufsTer3
NM_173088.1:c.797_800dup	NP_775111.1:p.Phe267LeufsTer3
NM_173089.1:c.338_341dup	NP_775112.1:p.Phe114LeufsTer3
NM_173090.1:c.338_341dup	NP_775113.1:p.Phe114LeufsTer3
NM_000070.3:c.2333_2336dup MANE Select	NP_000061.1:p.Phe779LeufsTer3
NM_024344.2:c.2315_2318dup	NP_077320.1:p.Phe773LeufsTer3
NM_173087.2:c.2057_2060dup	NP_775110.1:p.Phe687LeufsTer3
NM_173088.2:c.797_800dup	NP_775111.1:p.Phe267LeufsTer3
NM_173089.2:c.338_341dup	NP_775112.1:p.Phe114LeufsTer3
NM_173090.2:c.338_341dup	NP_775113.1:p.Phe114LeufsTer3