Canonical Allele Identifier: CA2172720535

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410149_42410150delinsAG , CM000677.2:g.42410149_42410150delinsAG	GRCh38
NC_000015.9:g.42702347_42702348delinsAG , CM000677.1:g.42702347_42702348delinsAG	GRCh37
NC_000015.8:g.40489639_40489640delinsAG	NCBI36
NG_008660.1:g.67047_67048delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.120+154_120+155delinsAG	ENSP00000336840.4:n.120+154_120+155delinsAG
ENST00000349748.8:c.1839+154_1839+155delinsAG	ENSP00000183936.4:n.1839+154_1839+155delinsAG
ENST00000357568.8:c.2097+154_2097+155delinsAG	ENSP00000350181.3:n.2097+154_2097+155delinsAG
ENST00000397163.8:c.2115+154_2115+155delinsAG MANE Select	ENSP00000380349.3:n.2115+154_2115+155delinsAG
ENST00000397204.9:c.120+154_120+155delinsAG	ENSP00000380387.4:n.120+154_120+155delinsAG
ENST00000466222.7:n.380+154_380+155delinsAG
ENST00000466369.5:n.2606+154_2606+155delinsAG
ENST00000495723.1:n.2986+154_2986+155delinsAG
ENST00000549793.5:n.2328+154_2328+155delinsAG
ENST00000562199.2:c.123+154_123+155delinsAG	ENSP00000501034.1:n.123+154_123+155delinsAG
ENST00000569136.6:c.120+154_120+155delinsAG	ENSP00000455254.1:n.120+154_120+155delinsAG
ENST00000638141.2:n.1854+154_1854+155delinsAG
ENST00000673646.1:c.679+154_679+155delinsAG	ENSP00000501007.1:n.679+154_679+155delinsAG
ENST00000673687.1:n.346_347delinsAG
ENST00000673692.1:c.120+154_120+155delinsAG	ENSP00000501138.1:n.120+154_120+155delinsAG
ENST00000673705.1:c.510+154_510+155delinsAG	ENSP00000501021.1:n.510+154_510+155delinsAG
ENST00000673743.1:c.18+154_18+155delinsAG	ENSP00000500989.1:n.18+154_18+155delinsAG
ENST00000673750.1:c.120+154_120+155delinsAG	ENSP00000501173.1:n.120+154_120+155delinsAG
ENST00000673771.1:c.120+154_120+155delinsAG	ENSP00000501023.1:n.120+154_120+155delinsAG
ENST00000673774.1:n.970_971delinsAG
ENST00000673839.1:c.120+154_120+155delinsAG	ENSP00000501188.1:n.120+154_120+155delinsAG
ENST00000673851.1:c.120+154_120+155delinsAG	ENSP00000501142.1:n.120+154_120+155delinsAG
ENST00000673854.1:n.5537+154_5537+155delinsAG
ENST00000673886.1:c.120+154_120+155delinsAG	ENSP00000501155.1:n.120+154_120+155delinsAG
ENST00000673890.1:c.120+154_120+155delinsAG	ENSP00000501293.1:n.120+154_120+155delinsAG
ENST00000673893.1:c.193_194delinsAG	ENSP00000500987.1:n.193_194delinsAG
ENST00000673928.1:c.120+154_120+155delinsAG	ENSP00000501099.1:n.120+154_120+155delinsAG
ENST00000673936.1:c.120+154_120+155delinsAG	ENSP00000501189.1:n.120+154_120+155delinsAG
ENST00000673939.1:c.120+154_120+155delinsAG	ENSP00000501129.1:n.120+154_120+155delinsAG
ENST00000673950.1:n.389+154_389+155delinsAG
ENST00000673978.1:c.258+154_258+155delinsAG	ENSP00000500976.1:n.258+154_258+155delinsAG
ENST00000673987.1:c.120+154_120+155delinsAG	ENSP00000501231.1:n.120+154_120+155delinsAG
ENST00000674011.1:c.120+154_120+155delinsAG	ENSP00000501171.1:n.120+154_120+155delinsAG
ENST00000674018.1:c.120+154_120+155delinsAG	ENSP00000501271.1:n.120+154_120+155delinsAG
ENST00000674027.1:n.175+154_175+155delinsAG
ENST00000674041.1:c.120+154_120+155delinsAG	ENSP00000500956.1:n.120+154_120+155delinsAG
ENST00000674052.1:c.339+154_339+155delinsAG	ENSP00000501057.1:n.339+154_339+155delinsAG
ENST00000674093.1:c.120+154_120+155delinsAG	ENSP00000501303.1:n.120+154_120+155delinsAG
ENST00000674119.1:c.120+154_120+155delinsAG	ENSP00000501217.1:n.120+154_120+155delinsAG
ENST00000674130.1:n.487_488delinsAG
ENST00000674135.1:c.297+154_297+155delinsAG	ENSP00000501178.1:n.297+154_297+155delinsAG
ENST00000674139.1:c.120+154_120+155delinsAG	ENSP00000501054.1:n.120+154_120+155delinsAG
ENST00000674146.1:c.120+154_120+155delinsAG	ENSP00000501175.1:n.120+154_120+155delinsAG
ENST00000674149.1:c.120+154_120+155delinsAG	ENSP00000501112.1:n.120+154_120+155delinsAG
ENST00000318023.11:c.1971+154_1971+155delinsAG	ENSP00000326281.8:n.1971+154_1971+155delinsAG
ENST00000337571.8:c.120+154_120+155delinsAG	ENSP00000336840.4:n.120+154_120+155delinsAG
ENST00000349748.7:c.1839+154_1839+155delinsAG	ENSP00000183936.4:n.1839+154_1839+155delinsAG
ENST00000356316.7:c.120+154_120+155delinsAG	ENSP00000348667.4:n.120+154_120+155delinsAG
ENST00000357568.7:c.2097+154_2097+155delinsAG	ENSP00000350181.3:n.2097+154_2097+155delinsAG
ENST00000397163.7:c.2115+154_2115+155delinsAG	ENSP00000380349.3:n.2115+154_2115+155delinsAG
ENST00000397200.8:c.579+154_579+155delinsAG	ENSP00000380384.4:n.579+154_579+155delinsAG
ENST00000397204.8:c.120+154_120+155delinsAG	ENSP00000380387.4:n.120+154_120+155delinsAG
ENST00000466222.6:n.1038+154_1038+155delinsAG
ENST00000561817.5:c.120+154_120+155delinsAG	ENSP00000456575.1:n.120+154_120+155delinsAG
ENST00000562199.1:n.123+154_123+155delinsAG
ENST00000564503.5:c.212+154_212+155delinsAG
ENST00000565274.5:c.327+154_327+155delinsAG	ENSP00000457759.1:n.327+154_327+155delinsAG
ENST00000565559.5:c.297+154_297+155delinsAG	ENSP00000457878.1:n.297+154_297+155delinsAG
ENST00000569136.5:c.120+154_120+155delinsAG	ENSP00000455254.1:n.120+154_120+155delinsAG
ENST00000569827.5:c.447+154_447+155delinsAG	ENSP00000454379.1:n.447+154_447+155delinsAG
NM_000070.2:c.2115+154_2115+155delinsAG	NP_000061.1:n.2115+154_2115+155delinsAG
NM_024344.1:c.2097+154_2097+155delinsAG	NP_077320.1:n.2097+154_2097+155delinsAG
NM_173087.1:c.1839+154_1839+155delinsAG	NP_775110.1:n.1839+154_1839+155delinsAG
NM_173088.1:c.579+154_579+155delinsAG	NP_775111.1:n.579+154_579+155delinsAG
NM_173089.1:c.120+154_120+155delinsAG	NP_775112.1:n.120+154_120+155delinsAG
NM_173090.1:c.120+154_120+155delinsAG	NP_775113.1:n.120+154_120+155delinsAG
NM_000070.3:c.2115+154_2115+155delinsAG MANE Select	NP_000061.1:n.2115+154_2115+155delinsAG
NM_024344.2:c.2097+154_2097+155delinsAG	NP_077320.1:n.2097+154_2097+155delinsAG
NM_173087.2:c.1839+154_1839+155delinsAG	NP_775110.1:n.1839+154_1839+155delinsAG
NM_173088.2:c.579+154_579+155delinsAG	NP_775111.1:n.579+154_579+155delinsAG
NM_173089.2:c.120+154_120+155delinsAG	NP_775112.1:n.120+154_120+155delinsAG
NM_173090.2:c.120+154_120+155delinsAG	NP_775113.1:n.120+154_120+155delinsAG