Canonical Allele Identifier: CA2628042143

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42410057-TACAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410058_42410061del , CM000677.2:g.42410058_42410061del	GRCh38
NC_000015.9:g.42702256_42702259del , CM000677.1:g.42702256_42702259del	GRCh37
NC_000015.8:g.40489548_40489551del	NCBI36
NG_008660.1:g.66956_66959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.120+63_120+66del	ENSP00000336840.4:n.120+63_120+66del
ENST00000349748.8:c.1839+63_1839+66del	ENSP00000183936.4:n.1839+63_1839+66del
ENST00000357568.8:c.2097+63_2097+66del	ENSP00000350181.3:n.2097+63_2097+66del
ENST00000397163.8:c.2115+63_2115+66del MANE Select	ENSP00000380349.3:n.2115+63_2115+66del
ENST00000397204.9:c.120+63_120+66del	ENSP00000380387.4:n.120+63_120+66del
ENST00000466222.7:n.380+63_380+66del
ENST00000466369.5:n.2606+63_2606+66del
ENST00000495723.1:n.2986+63_2986+66del
ENST00000549793.5:n.2328+63_2328+66del
ENST00000562199.2:c.123+63_123+66del	ENSP00000501034.1:n.123+63_123+66del
ENST00000569136.6:c.120+63_120+66del	ENSP00000455254.1:n.120+63_120+66del
ENST00000638141.2:n.1854+63_1854+66del
ENST00000673646.1:c.679+63_679+66del	ENSP00000501007.1:n.679+63_679+66del
ENST00000673687.1:n.255_258del
ENST00000673692.1:c.120+63_120+66del	ENSP00000501138.1:n.120+63_120+66del
ENST00000673705.1:c.510+63_510+66del	ENSP00000501021.1:n.510+63_510+66del
ENST00000673743.1:c.18+63_18+66del	ENSP00000500989.1:n.18+63_18+66del
ENST00000673750.1:c.120+63_120+66del	ENSP00000501173.1:n.120+63_120+66del
ENST00000673771.1:c.120+63_120+66del	ENSP00000501023.1:n.120+63_120+66del
ENST00000673774.1:n.879_882del
ENST00000673839.1:c.120+63_120+66del	ENSP00000501188.1:n.120+63_120+66del
ENST00000673851.1:c.120+63_120+66del	ENSP00000501142.1:n.120+63_120+66del
ENST00000673854.1:n.5537+63_5537+66del
ENST00000673886.1:c.120+63_120+66del	ENSP00000501155.1:n.120+63_120+66del
ENST00000673890.1:c.120+63_120+66del	ENSP00000501293.1:n.120+63_120+66del
ENST00000673893.1:c.102_105del	ENSP00000500987.1:p.Ile34MetfsTer?
ENST00000673928.1:c.120+63_120+66del	ENSP00000501099.1:n.120+63_120+66del
ENST00000673936.1:c.120+63_120+66del	ENSP00000501189.1:n.120+63_120+66del
ENST00000673939.1:c.120+63_120+66del	ENSP00000501129.1:n.120+63_120+66del
ENST00000673950.1:n.389+63_389+66del
ENST00000673978.1:c.258+63_258+66del	ENSP00000500976.1:n.258+63_258+66del
ENST00000673987.1:c.120+63_120+66del	ENSP00000501231.1:n.120+63_120+66del
ENST00000674011.1:c.120+63_120+66del	ENSP00000501171.1:n.120+63_120+66del
ENST00000674018.1:c.120+63_120+66del	ENSP00000501271.1:n.120+63_120+66del
ENST00000674027.1:n.175+63_175+66del
ENST00000674041.1:c.120+63_120+66del	ENSP00000500956.1:n.120+63_120+66del
ENST00000674052.1:c.339+63_339+66del	ENSP00000501057.1:n.339+63_339+66del
ENST00000674093.1:c.120+63_120+66del	ENSP00000501303.1:n.120+63_120+66del
ENST00000674119.1:c.120+63_120+66del	ENSP00000501217.1:n.120+63_120+66del
ENST00000674130.1:n.396_399del
ENST00000674135.1:c.297+63_297+66del	ENSP00000501178.1:n.297+63_297+66del
ENST00000674139.1:c.120+63_120+66del	ENSP00000501054.1:n.120+63_120+66del
ENST00000674146.1:c.120+63_120+66del	ENSP00000501175.1:n.120+63_120+66del
ENST00000674149.1:c.120+63_120+66del	ENSP00000501112.1:n.120+63_120+66del
ENST00000318023.11:c.1971+63_1971+66del	ENSP00000326281.8:n.1971+63_1971+66del
ENST00000337571.8:c.120+63_120+66del	ENSP00000336840.4:n.120+63_120+66del
ENST00000349748.7:c.1839+63_1839+66del	ENSP00000183936.4:n.1839+63_1839+66del
ENST00000356316.7:c.120+63_120+66del	ENSP00000348667.4:n.120+63_120+66del
ENST00000357568.7:c.2097+63_2097+66del	ENSP00000350181.3:n.2097+63_2097+66del
ENST00000397163.7:c.2115+63_2115+66del	ENSP00000380349.3:n.2115+63_2115+66del
ENST00000397200.8:c.579+63_579+66del	ENSP00000380384.4:n.579+63_579+66del
ENST00000397204.8:c.120+63_120+66del	ENSP00000380387.4:n.120+63_120+66del
ENST00000466222.6:n.1038+63_1038+66del
ENST00000561817.5:c.120+63_120+66del	ENSP00000456575.1:n.120+63_120+66del
ENST00000562199.1:n.123+63_123+66del
ENST00000564503.5:c.212+63_212+66del
ENST00000565274.5:c.327+63_327+66del	ENSP00000457759.1:n.327+63_327+66del
ENST00000565559.5:c.297+63_297+66del	ENSP00000457878.1:n.297+63_297+66del
ENST00000569136.5:c.120+63_120+66del	ENSP00000455254.1:n.120+63_120+66del
ENST00000569827.5:c.447+63_447+66del	ENSP00000454379.1:n.447+63_447+66del
NM_000070.2:c.2115+63_2115+66del	NP_000061.1:n.2115+63_2115+66del
NM_024344.1:c.2097+63_2097+66del	NP_077320.1:n.2097+63_2097+66del
NM_173087.1:c.1839+63_1839+66del	NP_775110.1:n.1839+63_1839+66del
NM_173088.1:c.579+63_579+66del	NP_775111.1:n.579+63_579+66del
NM_173089.1:c.120+63_120+66del	NP_775112.1:n.120+63_120+66del
NM_173090.1:c.120+63_120+66del	NP_775113.1:n.120+63_120+66del
NM_000070.3:c.2115+63_2115+66del MANE Select	NP_000061.1:n.2115+63_2115+66del
NM_024344.2:c.2097+63_2097+66del	NP_077320.1:n.2097+63_2097+66del
NM_173087.2:c.1839+63_1839+66del	NP_775110.1:n.1839+63_1839+66del
NM_173088.2:c.579+63_579+66del	NP_775111.1:n.579+63_579+66del
NM_173089.2:c.120+63_120+66del	NP_775112.1:n.120+63_120+66del
NM_173090.2:c.120+63_120+66del	NP_775113.1:n.120+63_120+66del