Canonical Allele Identifier: CA2628034917

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42409870-T-TGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409871_42409907dup , CM000677.2:g.42409871_42409907dup	GRCh38
NC_000015.9:g.42702069_42702105dup , CM000677.1:g.42702069_42702105dup	GRCh37
NC_000015.8:g.40489361_40489397dup	NCBI36
NG_008660.1:g.66769_66805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.55+27_56-24dup	ENSP00000336840.4:n.55+27_56-24dup
ENST00000349748.8:c.1774+27_1775-24dup	ENSP00000183936.4:n.1774+27_1775-24dup
ENST00000357568.8:c.2032+27_2033-24dup	ENSP00000350181.3:n.2032+27_2033-24dup
ENST00000397163.8:c.2050+27_2051-24dup MANE Select	ENSP00000380349.3:n.2050+27_2051-24dup
ENST00000397204.9:c.55+27_56-24dup	ENSP00000380387.4:n.55+27_56-24dup
ENST00000466222.7:n.315+27_316-24dup
ENST00000466369.5:n.2541+27_2542-24dup
ENST00000495723.1:n.2921+27_2922-24dup
ENST00000549793.5:n.2263+27_2264-24dup
ENST00000562199.2:c.58+27_59-24dup	ENSP00000501034.1:n.58+27_59-24dup
ENST00000569136.6:c.55+27_56-24dup	ENSP00000455254.1:n.55+27_56-24dup
ENST00000638141.2:n.1789+27_1790-24dup
ENST00000673646.1:c.614+27_615-24dup	ENSP00000501007.1:n.614+27_615-24dup
ENST00000673687.1:n.127+27_128-24dup
ENST00000673692.1:c.55+27_56-24dup	ENSP00000501138.1:n.55+27_56-24dup
ENST00000673705.1:c.445+27_446-24dup	ENSP00000501021.1:n.445+27_446-24dup
ENST00000673743.1:c.-43+27_-42-29dup	ENSP00000500989.1:n.-43+27_-42-29dup
ENST00000673750.1:c.55+27_56-24dup	ENSP00000501173.1:n.55+27_56-24dup
ENST00000673771.1:c.55+27_56-24dup	ENSP00000501023.1:n.55+27_56-24dup
ENST00000673774.1:n.751+27_752-24dup
ENST00000673839.1:c.55+27_56-24dup	ENSP00000501188.1:n.55+27_56-24dup
ENST00000673851.1:c.55+27_56-24dup	ENSP00000501142.1:n.55+27_56-24dup
ENST00000673854.1:n.5472+27_5473-24dup
ENST00000673886.1:c.55+27_56-24dup	ENSP00000501155.1:n.55+27_56-24dup
ENST00000673890.1:c.55+27_56-24dup	ENSP00000501293.1:n.55+27_56-24dup
ENST00000673928.1:c.55+27_56-24dup	ENSP00000501099.1:n.55+27_56-24dup
ENST00000673936.1:c.55+27_56-24dup	ENSP00000501189.1:n.55+27_56-24dup
ENST00000673939.1:c.55+27_56-24dup	ENSP00000501129.1:n.55+27_56-24dup
ENST00000673950.1:n.324+27_325-24dup
ENST00000673978.1:c.193+27_194-24dup	ENSP00000500976.1:n.193+27_194-24dup
ENST00000673987.1:c.55+27_56-24dup	ENSP00000501231.1:n.55+27_56-24dup
ENST00000674011.1:c.55+27_56-24dup	ENSP00000501171.1:n.55+27_56-24dup
ENST00000674018.1:c.55+27_56-24dup	ENSP00000501271.1:n.55+27_56-24dup
ENST00000674027.1:n.110+27_111-24dup
ENST00000674041.1:c.55+27_56-24dup	ENSP00000500956.1:n.55+27_56-24dup
ENST00000674052.1:c.274+27_275-24dup	ENSP00000501057.1:n.274+27_275-24dup
ENST00000674093.1:c.55+27_56-24dup	ENSP00000501303.1:n.55+27_56-24dup
ENST00000674119.1:c.55+27_56-24dup	ENSP00000501217.1:n.55+27_56-24dup
ENST00000674130.1:n.268+27_269-24dup
ENST00000674135.1:c.232+27_233-24dup	ENSP00000501178.1:n.232+27_233-24dup
ENST00000674139.1:c.55+27_56-24dup	ENSP00000501054.1:n.55+27_56-24dup
ENST00000674146.1:c.55+27_56-24dup	ENSP00000501175.1:n.55+27_56-24dup
ENST00000674149.1:c.55+27_56-24dup	ENSP00000501112.1:n.55+27_56-24dup
ENST00000318023.11:c.1906+27_1907-24dup	ENSP00000326281.8:n.1906+27_1907-24dup
ENST00000337571.8:c.55+27_56-24dup	ENSP00000336840.4:n.55+27_56-24dup
ENST00000349748.7:c.1774+27_1775-24dup	ENSP00000183936.4:n.1774+27_1775-24dup
ENST00000356316.7:c.55+27_56-24dup	ENSP00000348667.4:n.55+27_56-24dup
ENST00000357568.7:c.2032+27_2033-24dup	ENSP00000350181.3:n.2032+27_2033-24dup
ENST00000397163.7:c.2050+27_2051-24dup	ENSP00000380349.3:n.2050+27_2051-24dup
ENST00000397200.8:c.514+27_515-24dup	ENSP00000380384.4:n.514+27_515-24dup
ENST00000397204.8:c.55+27_56-24dup	ENSP00000380387.4:n.55+27_56-24dup
ENST00000466222.6:n.973+27_974-24dup
ENST00000561817.5:c.55+27_56-24dup	ENSP00000456575.1:n.55+27_56-24dup
ENST00000562199.1:n.58+27_59-24dup
ENST00000564503.5:c.147+27_148-24dup
ENST00000565274.5:c.262+27_263-24dup	ENSP00000457759.1:n.262+27_263-24dup
ENST00000565559.5:c.232+27_233-24dup	ENSP00000457878.1:n.232+27_233-24dup
ENST00000567071.5:c.530+27_531-24dup
ENST00000569136.5:c.55+27_56-24dup	ENSP00000455254.1:n.55+27_56-24dup
ENST00000569827.5:c.382+27_383-24dup	ENSP00000454379.1:n.382+27_383-24dup
NM_000070.2:c.2050+27_2051-24dup	NP_000061.1:n.2050+27_2051-24dup
NM_024344.1:c.2032+27_2033-24dup	NP_077320.1:n.2032+27_2033-24dup
NM_173087.1:c.1774+27_1775-24dup	NP_775110.1:n.1774+27_1775-24dup
NM_173088.1:c.514+27_515-24dup	NP_775111.1:n.514+27_515-24dup
NM_173089.1:c.55+27_56-24dup	NP_775112.1:n.55+27_56-24dup
NM_173090.1:c.55+27_56-24dup	NP_775113.1:n.55+27_56-24dup
NM_000070.3:c.2050+27_2051-24dup MANE Select	NP_000061.1:n.2050+27_2051-24dup
NM_024344.2:c.2032+27_2033-24dup	NP_077320.1:n.2032+27_2033-24dup
NM_173087.2:c.1774+27_1775-24dup	NP_775110.1:n.1774+27_1775-24dup
NM_173088.2:c.514+27_515-24dup	NP_775111.1:n.514+27_515-24dup
NM_173089.2:c.55+27_56-24dup	NP_775112.1:n.55+27_56-24dup
NM_173090.2:c.55+27_56-24dup	NP_775113.1:n.55+27_56-24dup