Canonical Allele Identifier: CA2695197269

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2680391
• ClinVar RCV Id: RCV003460328

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410960_42410961del , CM000677.2:g.42410960_42410961del	GRCh38
NC_000015.9:g.42703158_42703159del , CM000677.1:g.42703158_42703159del	GRCh37
NC_000015.8:g.40490450_40490451del	NCBI36
NG_008660.1:g.67858_67859del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.345_346del	ENSP00000336840.4:p.Asp115GlufsTer8
ENST00000349748.8:c.2064_2065del	ENSP00000183936.4:p.Asp688GlufsTer8
ENST00000357568.8:c.2322_2323del	ENSP00000350181.3:p.Asp774GlufsTer8
ENST00000397163.8:c.2340_2341del MANE Select	ENSP00000380349.3:p.Asp780GlufsTer8
ENST00000397204.9:c.345_346del	ENSP00000380387.4:p.Asp115GlufsTer8
ENST00000466222.7:n.751+34_751+35del
ENST00000466369.5:n.2831_2832del
ENST00000495723.1:n.3211_3212del
ENST00000549793.5:n.2553_2554del
ENST00000562199.2:c.344_345del	ENSP00000501034.1:n.344_345del
ENST00000567817.6:c.129_130del	ENSP00000456514.2:p.Asp43GlufsTer8
ENST00000568153.2:c.206_207del
ENST00000569136.6:c.345_346del	ENSP00000455254.1:p.Asp115GlufsTer8
ENST00000638141.2:n.2079_2080del
ENST00000673646.1:c.904_905del	ENSP00000501007.1:n.904_905del
ENST00000673684.1:n.322_323del
ENST00000673692.1:c.345_346del	ENSP00000501138.1:p.Asp115GlufsTer8
ENST00000673705.1:c.883_884del	ENSP00000501021.1:n.883_884del
ENST00000673743.1:c.243_244del	ENSP00000500989.1:p.Asp81GlufsTer8
ENST00000673750.1:c.345_346del	ENSP00000501173.1:p.Asp115GlufsTer8
ENST00000673771.1:c.345_346del	ENSP00000501023.1:p.Asp115GlufsTer8
ENST00000673774.1:n.1473_1474del
ENST00000673839.1:c.345_346del	ENSP00000501188.1:p.Asp115GlufsTer8
ENST00000673851.1:c.345_346del	ENSP00000501142.1:p.Asp115GlufsTer8
ENST00000673854.1:n.5762_5763del
ENST00000673886.1:c.345_346del	ENSP00000501155.1:p.Asp115GlufsTer8
ENST00000673890.1:c.345_346del	ENSP00000501293.1:p.Asp115GlufsTer8
ENST00000673928.1:c.345_346del	ENSP00000501099.1:p.Asp115GlufsTer8
ENST00000673936.1:c.345_346del	ENSP00000501189.1:p.Asp115GlufsTer8
ENST00000673939.1:c.*100+34_*100+35del	ENSP00000501129.1:n.*100+34_*100+35del
ENST00000673950.1:n.614_615del
ENST00000673978.1:c.483_484del	ENSP00000500976.1:p.Asp161GlufsTer8
ENST00000673987.1:c.*100+34_*100+35del	ENSP00000501231.1:n.*100+34_*100+35del
ENST00000674011.1:c.*134_*135del	ENSP00000501171.1:n.*134_*135del
ENST00000674018.1:c.345_346del	ENSP00000501271.1:p.Asp115GlufsTer8
ENST00000674027.1:n.491_492del
ENST00000674041.1:c.345_346del	ENSP00000500956.1:p.Asp115GlufsTer8
ENST00000674052.1:c.564_565del	ENSP00000501057.1:p.Asp188GlufsTer8
ENST00000674093.1:c.345_346del	ENSP00000501303.1:p.Asp115GlufsTer8
ENST00000674119.1:c.345_346del	ENSP00000501217.1:p.Asp115GlufsTer8
ENST00000674135.1:c.522_523del	ENSP00000501178.1:p.Asp174GlufsTer8
ENST00000674139.1:c.345_346del	ENSP00000501054.1:p.Asp115GlufsTer8
ENST00000674146.1:c.345_346del	ENSP00000501175.1:p.Asp115GlufsTer8
ENST00000674149.1:c.345_346del	ENSP00000501112.1:p.Asp115GlufsTer8
ENST00000318023.11:c.2196_2197del	ENSP00000326281.8:p.Asp732GlufsTer8
ENST00000337571.8:c.345_346del	ENSP00000336840.4:p.Asp115GlufsTer8
ENST00000349748.7:c.2064_2065del	ENSP00000183936.4:p.Asp688GlufsTer8
ENST00000356316.7:c.345_346del	ENSP00000348667.4:p.Asp115GlufsTer8
ENST00000357568.7:c.2322_2323del	ENSP00000350181.3:p.Asp774GlufsTer8
ENST00000397163.7:c.2340_2341del	ENSP00000380349.3:p.Asp780GlufsTer8
ENST00000397200.8:c.804_805del	ENSP00000380384.4:p.Asp268GlufsTer8
ENST00000397204.8:c.345_346del	ENSP00000380387.4:p.Asp115GlufsTer8
ENST00000466222.6:n.1263_1264del
ENST00000561817.5:c.345_346del	ENSP00000456575.1:p.Asp115GlufsTer8
ENST00000562199.1:n.344_345del
ENST00000564503.5:c.383_384del
ENST00000565274.5:c.518_519del	ENSP00000457759.1:n.518_519del
ENST00000567817.5:c.156_157del	ENSP00000456514.1:p.Asp52GlufsTer8
ENST00000568153.1:c.77_78del
ENST00000569136.5:c.345_346del	ENSP00000455254.1:p.Asp115GlufsTer8
ENST00000569827.5:c.672_673del	ENSP00000454379.1:p.Asp224GlufsTer8
NM_000070.2:c.2340_2341del	NP_000061.1:p.Asp780GlufsTer8
NM_024344.1:c.2322_2323del	NP_077320.1:p.Asp774GlufsTer8
NM_173087.1:c.2064_2065del	NP_775110.1:p.Asp688GlufsTer8
NM_173088.1:c.804_805del	NP_775111.1:p.Asp268GlufsTer8
NM_173089.1:c.345_346del	NP_775112.1:p.Asp115GlufsTer8
NM_173090.1:c.345_346del	NP_775113.1:p.Asp115GlufsTer8
NM_000070.3:c.2340_2341del MANE Select	NP_000061.1:p.Asp780GlufsTer8
NM_024344.2:c.2322_2323del	NP_077320.1:p.Asp774GlufsTer8
NM_173087.2:c.2064_2065del	NP_775110.1:p.Asp688GlufsTer8
NM_173088.2:c.804_805del	NP_775111.1:p.Asp268GlufsTer8
NM_173089.2:c.345_346del	NP_775112.1:p.Asp115GlufsTer8
NM_173090.2:c.345_346del	NP_775113.1:p.Asp115GlufsTer8