Canonical Allele Identifier: CA2730850727

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2920154
• ClinVar RCV Id: RCV003632963
• dbSNP Id: rs2141227151

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411270_42411272dup , CM000677.2:g.42411270_42411272dup	GRCh38
NC_000015.9:g.42703468_42703470dup , CM000677.1:g.42703468_42703470dup	GRCh37
NC_000015.8:g.40490760_40490762dup	NCBI36
NG_008660.1:g.68168_68170dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.386-17_386-15dup	ENSP00000336840.4:n.386-17_386-15dup
ENST00000349748.8:c.2105-17_2105-15dup	ENSP00000183936.4:n.2105-17_2105-15dup
ENST00000357568.8:c.2363-17_2363-15dup	ENSP00000350181.3:n.2363-17_2363-15dup
ENST00000397163.8:c.2381-17_2381-15dup MANE Select	ENSP00000380349.3:n.2381-17_2381-15dup
ENST00000397204.9:c.386-17_386-15dup	ENSP00000380387.4:n.386-17_386-15dup
ENST00000466222.7:n.752-17_752-15dup
ENST00000466369.5:n.2872-17_2872-15dup
ENST00000495723.1:n.3252-17_3252-15dup
ENST00000549793.5:n.2594-17_2594-15dup
ENST00000562199.2:c.385-17_385-15dup	ENSP00000501034.1:n.385-17_385-15dup
ENST00000567817.6:c.170-17_170-15dup	ENSP00000456514.2:n.170-17_170-15dup
ENST00000568153.2:c.247-17_247-15dup
ENST00000569136.6:c.386-17_386-15dup	ENSP00000455254.1:n.386-17_386-15dup
ENST00000638141.2:n.2120-17_2120-15dup
ENST00000673646.1:c.945-17_945-15dup	ENSP00000501007.1:n.945-17_945-15dup
ENST00000673684.1:n.363-17_363-15dup
ENST00000673692.1:c.386-17_386-15dup	ENSP00000501138.1:n.386-17_386-15dup
ENST00000673705.1:c.1193_1195dup	ENSP00000501021.1:n.1193_1195dup
ENST00000673743.1:c.284-17_284-15dup	ENSP00000500989.1:n.284-17_284-15dup
ENST00000673750.1:c.386-17_386-15dup	ENSP00000501173.1:n.386-17_386-15dup
ENST00000673771.1:c.386-17_386-15dup	ENSP00000501023.1:n.386-17_386-15dup
ENST00000673774.1:n.1514-17_1514-15dup
ENST00000673839.1:c.386-17_386-15dup	ENSP00000501188.1:n.386-17_386-15dup
ENST00000673851.1:c.386-17_386-15dup	ENSP00000501142.1:n.386-17_386-15dup
ENST00000673854.1:n.5803-17_5803-15dup
ENST00000673886.1:c.386-17_386-15dup	ENSP00000501155.1:n.386-17_386-15dup
ENST00000673890.1:c.386-17_386-15dup	ENSP00000501293.1:n.386-17_386-15dup
ENST00000673928.1:c.386-17_386-15dup	ENSP00000501099.1:n.386-17_386-15dup
ENST00000673936.1:c.386-17_386-15dup	ENSP00000501189.1:n.386-17_386-15dup
ENST00000673939.1:c.*101-17_*101-15dup	ENSP00000501129.1:n.*101-17_*101-15dup
ENST00000673950.1:n.655-17_655-15dup
ENST00000673978.1:c.524-17_524-15dup	ENSP00000500976.1:n.524-17_524-15dup
ENST00000673987.1:c.*101-17_*101-15dup	ENSP00000501231.1:n.*101-17_*101-15dup
ENST00000674011.1:c.*175-17_*175-15dup	ENSP00000501171.1:n.*175-17_*175-15dup
ENST00000674018.1:c.386-17_386-15dup	ENSP00000501271.1:n.386-17_386-15dup
ENST00000674027.1:n.532-17_532-15dup
ENST00000674041.1:c.386-17_386-15dup	ENSP00000500956.1:n.386-17_386-15dup
ENST00000674052.1:c.605-17_605-15dup	ENSP00000501057.1:n.605-17_605-15dup
ENST00000674093.1:c.386-17_386-15dup	ENSP00000501303.1:n.386-17_386-15dup
ENST00000674119.1:c.386-17_386-15dup	ENSP00000501217.1:n.386-17_386-15dup
ENST00000674135.1:c.563-17_563-15dup	ENSP00000501178.1:n.563-17_563-15dup
ENST00000674139.1:c.386-17_386-15dup	ENSP00000501054.1:n.386-17_386-15dup
ENST00000674146.1:c.386-17_386-15dup	ENSP00000501175.1:n.386-17_386-15dup
ENST00000674149.1:c.386-17_386-15dup	ENSP00000501112.1:n.386-17_386-15dup
ENST00000318023.11:c.2237-17_2237-15dup	ENSP00000326281.8:n.2237-17_2237-15dup
ENST00000337571.8:c.386-17_386-15dup	ENSP00000336840.4:n.386-17_386-15dup
ENST00000349748.7:c.2105-17_2105-15dup	ENSP00000183936.4:n.2105-17_2105-15dup
ENST00000356316.7:c.386-17_386-15dup	ENSP00000348667.4:n.386-17_386-15dup
ENST00000357568.7:c.2363-17_2363-15dup	ENSP00000350181.3:n.2363-17_2363-15dup
ENST00000397163.7:c.2381-17_2381-15dup	ENSP00000380349.3:n.2381-17_2381-15dup
ENST00000397200.8:c.845-17_845-15dup	ENSP00000380384.4:n.845-17_845-15dup
ENST00000397204.8:c.386-17_386-15dup	ENSP00000380387.4:n.386-17_386-15dup
ENST00000466222.6:n.1304-17_1304-15dup
ENST00000561817.5:c.386-17_386-15dup	ENSP00000456575.1:n.386-17_386-15dup
ENST00000564503.5:c.424-17_424-15dup
ENST00000565274.5:c.559-17_559-15dup	ENSP00000457759.1:n.559-17_559-15dup
ENST00000567817.5:c.197-17_197-15dup	ENSP00000456514.1:n.197-17_197-15dup
ENST00000568153.1:c.118-17_118-15dup
ENST00000569136.5:c.386-17_386-15dup	ENSP00000455254.1:n.386-17_386-15dup
ENST00000569827.5:c.713-17_713-15dup	ENSP00000454379.1:n.713-17_713-15dup
NM_000070.2:c.2381-17_2381-15dup	NP_000061.1:n.2381-17_2381-15dup
NM_024344.1:c.2363-17_2363-15dup	NP_077320.1:n.2363-17_2363-15dup
NM_173087.1:c.2105-17_2105-15dup	NP_775110.1:n.2105-17_2105-15dup
NM_173088.1:c.845-17_845-15dup	NP_775111.1:n.845-17_845-15dup
NM_173089.1:c.386-17_386-15dup	NP_775112.1:n.386-17_386-15dup
NM_173090.1:c.386-17_386-15dup	NP_775113.1:n.386-17_386-15dup
NM_000070.3:c.2381-17_2381-15dup MANE Select	NP_000061.1:n.2381-17_2381-15dup
NM_024344.2:c.2363-17_2363-15dup	NP_077320.1:n.2363-17_2363-15dup
NM_173087.2:c.2105-17_2105-15dup	NP_775110.1:n.2105-17_2105-15dup
NM_173088.2:c.845-17_845-15dup	NP_775111.1:n.845-17_845-15dup
NM_173089.2:c.386-17_386-15dup	NP_775112.1:n.386-17_386-15dup
NM_173090.2:c.386-17_386-15dup	NP_775113.1:n.386-17_386-15dup