Canonical Allele Identifier: CA2172720524

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410127_42410130delinsACAT , CM000677.2:g.42410127_42410130delinsACAT	GRCh38
NC_000015.9:g.42702325_42702328delinsACAT , CM000677.1:g.42702325_42702328delinsACAT	GRCh37
NC_000015.8:g.40489617_40489620delinsACAT	NCBI36
NG_008660.1:g.67025_67028delinsACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.120+132_120+135delinsACAT	ENSP00000336840.4:n.120+132_120+135delinsACAT
ENST00000349748.8:c.1839+132_1839+135delinsACAT	ENSP00000183936.4:n.1839+132_1839+135delinsACAT
ENST00000357568.8:c.2097+132_2097+135delinsACAT	ENSP00000350181.3:n.2097+132_2097+135delinsACAT
ENST00000397163.8:c.2115+132_2115+135delinsACAT MANE Select	ENSP00000380349.3:n.2115+132_2115+135delinsACAT
ENST00000397204.9:c.120+132_120+135delinsACAT	ENSP00000380387.4:n.120+132_120+135delinsACAT
ENST00000466222.7:n.380+132_380+135delinsACAT
ENST00000466369.5:n.2606+132_2606+135delinsACAT
ENST00000495723.1:n.2986+132_2986+135delinsACAT
ENST00000549793.5:n.2328+132_2328+135delinsACAT
ENST00000562199.2:c.123+132_123+135delinsACAT	ENSP00000501034.1:n.123+132_123+135delinsACAT
ENST00000569136.6:c.120+132_120+135delinsACAT	ENSP00000455254.1:n.120+132_120+135delinsACAT
ENST00000638141.2:n.1854+132_1854+135delinsACAT
ENST00000673646.1:c.679+132_679+135delinsACAT	ENSP00000501007.1:n.679+132_679+135delinsACAT
ENST00000673687.1:n.324_327delinsACAT
ENST00000673692.1:c.120+132_120+135delinsACAT	ENSP00000501138.1:n.120+132_120+135delinsACAT
ENST00000673705.1:c.510+132_510+135delinsACAT	ENSP00000501021.1:n.510+132_510+135delinsACAT
ENST00000673743.1:c.18+132_18+135delinsACAT	ENSP00000500989.1:n.18+132_18+135delinsACAT
ENST00000673750.1:c.120+132_120+135delinsACAT	ENSP00000501173.1:n.120+132_120+135delinsACAT
ENST00000673771.1:c.120+132_120+135delinsACAT	ENSP00000501023.1:n.120+132_120+135delinsACAT
ENST00000673774.1:n.948_951delinsACAT
ENST00000673839.1:c.120+132_120+135delinsACAT	ENSP00000501188.1:n.120+132_120+135delinsACAT
ENST00000673851.1:c.120+132_120+135delinsACAT	ENSP00000501142.1:n.120+132_120+135delinsACAT
ENST00000673854.1:n.5537+132_5537+135delinsACAT
ENST00000673886.1:c.120+132_120+135delinsACAT	ENSP00000501155.1:n.120+132_120+135delinsACAT
ENST00000673890.1:c.120+132_120+135delinsACAT	ENSP00000501293.1:n.120+132_120+135delinsACAT
ENST00000673893.1:c.171_174delinsACAT	ENSP00000500987.1:n.171_174delinsACAT
ENST00000673928.1:c.120+132_120+135delinsACAT	ENSP00000501099.1:n.120+132_120+135delinsACAT
ENST00000673936.1:c.120+132_120+135delinsACAT	ENSP00000501189.1:n.120+132_120+135delinsACAT
ENST00000673939.1:c.120+132_120+135delinsACAT	ENSP00000501129.1:n.120+132_120+135delinsACAT
ENST00000673950.1:n.389+132_389+135delinsACAT
ENST00000673978.1:c.258+132_258+135delinsACAT	ENSP00000500976.1:n.258+132_258+135delinsACAT
ENST00000673987.1:c.120+132_120+135delinsACAT	ENSP00000501231.1:n.120+132_120+135delinsACAT
ENST00000674011.1:c.120+132_120+135delinsACAT	ENSP00000501171.1:n.120+132_120+135delinsACAT
ENST00000674018.1:c.120+132_120+135delinsACAT	ENSP00000501271.1:n.120+132_120+135delinsACAT
ENST00000674027.1:n.175+132_175+135delinsACAT
ENST00000674041.1:c.120+132_120+135delinsACAT	ENSP00000500956.1:n.120+132_120+135delinsACAT
ENST00000674052.1:c.339+132_339+135delinsACAT	ENSP00000501057.1:n.339+132_339+135delinsACAT
ENST00000674093.1:c.120+132_120+135delinsACAT	ENSP00000501303.1:n.120+132_120+135delinsACAT
ENST00000674119.1:c.120+132_120+135delinsACAT	ENSP00000501217.1:n.120+132_120+135delinsACAT
ENST00000674130.1:n.465_468delinsACAT
ENST00000674135.1:c.297+132_297+135delinsACAT	ENSP00000501178.1:n.297+132_297+135delinsACAT
ENST00000674139.1:c.120+132_120+135delinsACAT	ENSP00000501054.1:n.120+132_120+135delinsACAT
ENST00000674146.1:c.120+132_120+135delinsACAT	ENSP00000501175.1:n.120+132_120+135delinsACAT
ENST00000674149.1:c.120+132_120+135delinsACAT	ENSP00000501112.1:n.120+132_120+135delinsACAT
ENST00000318023.11:c.1971+132_1971+135delinsACAT	ENSP00000326281.8:n.1971+132_1971+135delinsACAT
ENST00000337571.8:c.120+132_120+135delinsACAT	ENSP00000336840.4:n.120+132_120+135delinsACAT
ENST00000349748.7:c.1839+132_1839+135delinsACAT	ENSP00000183936.4:n.1839+132_1839+135delinsACAT
ENST00000356316.7:c.120+132_120+135delinsACAT	ENSP00000348667.4:n.120+132_120+135delinsACAT
ENST00000357568.7:c.2097+132_2097+135delinsACAT	ENSP00000350181.3:n.2097+132_2097+135delinsACAT
ENST00000397163.7:c.2115+132_2115+135delinsACAT	ENSP00000380349.3:n.2115+132_2115+135delinsACAT
ENST00000397200.8:c.579+132_579+135delinsACAT	ENSP00000380384.4:n.579+132_579+135delinsACAT
ENST00000397204.8:c.120+132_120+135delinsACAT	ENSP00000380387.4:n.120+132_120+135delinsACAT
ENST00000466222.6:n.1038+132_1038+135delinsACAT
ENST00000561817.5:c.120+132_120+135delinsACAT	ENSP00000456575.1:n.120+132_120+135delinsACAT
ENST00000562199.1:n.123+132_123+135delinsACAT
ENST00000564503.5:c.212+132_212+135delinsACAT
ENST00000565274.5:c.327+132_327+135delinsACAT	ENSP00000457759.1:n.327+132_327+135delinsACAT
ENST00000565559.5:c.297+132_297+135delinsACAT	ENSP00000457878.1:n.297+132_297+135delinsACAT
ENST00000569136.5:c.120+132_120+135delinsACAT	ENSP00000455254.1:n.120+132_120+135delinsACAT
ENST00000569827.5:c.447+132_447+135delinsACAT	ENSP00000454379.1:n.447+132_447+135delinsACAT
NM_000070.2:c.2115+132_2115+135delinsACAT	NP_000061.1:n.2115+132_2115+135delinsACAT
NM_024344.1:c.2097+132_2097+135delinsACAT	NP_077320.1:n.2097+132_2097+135delinsACAT
NM_173087.1:c.1839+132_1839+135delinsACAT	NP_775110.1:n.1839+132_1839+135delinsACAT
NM_173088.1:c.579+132_579+135delinsACAT	NP_775111.1:n.579+132_579+135delinsACAT
NM_173089.1:c.120+132_120+135delinsACAT	NP_775112.1:n.120+132_120+135delinsACAT
NM_173090.1:c.120+132_120+135delinsACAT	NP_775113.1:n.120+132_120+135delinsACAT
NM_000070.3:c.2115+132_2115+135delinsACAT MANE Select	NP_000061.1:n.2115+132_2115+135delinsACAT
NM_024344.2:c.2097+132_2097+135delinsACAT	NP_077320.1:n.2097+132_2097+135delinsACAT
NM_173087.2:c.1839+132_1839+135delinsACAT	NP_775110.1:n.1839+132_1839+135delinsACAT
NM_173088.2:c.579+132_579+135delinsACAT	NP_775111.1:n.579+132_579+135delinsACAT
NM_173089.2:c.120+132_120+135delinsACAT	NP_775112.1:n.120+132_120+135delinsACAT
NM_173090.2:c.120+132_120+135delinsACAT	NP_775113.1:n.120+132_120+135delinsACAT