Canonical Allele Identifier: CA7511750

Gene: CAPN3

Linked Data

• dbSNP Id: rs770443379
• ExAC: 15:42702671 TG / T
• gnomAD v2: 15-42702671-TG-T
• gnomAD v3: 15-42410473-TG-T
• gnomAD v4: 15-42410473-TG-T
• MyVariant Identifiers: chr15:g.42702672del (hg19) ; chr15:g.42410475del (hg38) ; chr15:g.42410474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410475del , CM000677.2:g.42410475del	GRCh38
NC_000015.9:g.42702673del , CM000677.1:g.42702673del	GRCh37
NC_000015.8:g.40489965del	NCBI36
NG_008660.1:g.67373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.168del	ENSP00000336840.4:p.Trp56Ter
ENST00000349748.8:c.1887del	ENSP00000183936.4:p.Trp629Ter
ENST00000357568.8:c.2145del	ENSP00000350181.3:p.Trp715Ter
ENST00000397163.8:c.2163del MANE Select	ENSP00000380349.3:p.Trp721Ter
ENST00000397204.9:c.168del	ENSP00000380387.4:p.Trp56Ter
ENST00000466222.7:n.428del
ENST00000466369.5:n.2654del
ENST00000495723.1:n.3034del
ENST00000549793.5:n.2376del
ENST00000562199.2:c.167del	ENSP00000501034.1:p.Gly56GlufsTer4
ENST00000568153.2:c.29del
ENST00000569136.6:c.168del	ENSP00000455254.1:p.Trp56Ter
ENST00000638141.2:n.1902del
ENST00000673646.1:c.727del	ENSP00000501007.1:n.727del
ENST00000673684.1:n.145del
ENST00000673687.1:n.672del
ENST00000673692.1:c.168del	ENSP00000501138.1:p.Trp56Ter
ENST00000673705.1:c.511-113del	ENSP00000501021.1:n.511-113del
ENST00000673743.1:c.66del	ENSP00000500989.1:p.Trp22Ter
ENST00000673750.1:c.168del	ENSP00000501173.1:p.Trp56Ter
ENST00000673771.1:c.168del	ENSP00000501023.1:p.Trp56Ter
ENST00000673774.1:n.1296del
ENST00000673839.1:c.168del	ENSP00000501188.1:p.Trp56Ter
ENST00000673851.1:c.168del	ENSP00000501142.1:p.Trp56Ter
ENST00000673854.1:n.5585del
ENST00000673886.1:c.168del	ENSP00000501155.1:p.Trp56Ter
ENST00000673890.1:c.168del	ENSP00000501293.1:p.Trp56Ter
ENST00000673893.1:c.366del	ENSP00000500987.1:n.366del
ENST00000673928.1:c.168del	ENSP00000501099.1:p.Trp56Ter
ENST00000673936.1:c.168del	ENSP00000501189.1:p.Trp56Ter
ENST00000673939.1:c.168del	ENSP00000501129.1:p.Trp56Ter
ENST00000673950.1:n.437del
ENST00000673978.1:c.306del	ENSP00000500976.1:p.Trp102Ter
ENST00000673987.1:c.168del	ENSP00000501231.1:p.Trp56Ter
ENST00000674011.1:c.168del	ENSP00000501171.1:p.Trp56Ter
ENST00000674018.1:c.168del	ENSP00000501271.1:p.Trp56Ter
ENST00000674027.1:n.223del
ENST00000674041.1:c.168del	ENSP00000500956.1:p.Trp56Ter
ENST00000674052.1:c.387del	ENSP00000501057.1:p.Trp129Ter
ENST00000674093.1:c.168del	ENSP00000501303.1:p.Trp56Ter
ENST00000674119.1:c.168del	ENSP00000501217.1:p.Trp56Ter
ENST00000674135.1:c.345del	ENSP00000501178.1:p.Trp115Ter
ENST00000674139.1:c.168del	ENSP00000501054.1:p.Trp56Ter
ENST00000674146.1:c.168del	ENSP00000501175.1:p.Trp56Ter
ENST00000674149.1:c.168del	ENSP00000501112.1:p.Trp56Ter
ENST00000318023.11:c.2019del	ENSP00000326281.8:p.Trp673Ter
ENST00000337571.8:c.168del	ENSP00000336840.4:p.Trp56Ter
ENST00000349748.7:c.1887del	ENSP00000183936.4:p.Trp629Ter
ENST00000356316.7:c.168del	ENSP00000348667.4:p.Trp56Ter
ENST00000357568.7:c.2145del	ENSP00000350181.3:p.Trp715Ter
ENST00000397163.7:c.2163del	ENSP00000380349.3:p.Trp721Ter
ENST00000397200.8:c.627del	ENSP00000380384.4:p.Trp209Ter
ENST00000397204.8:c.168del	ENSP00000380387.4:p.Trp56Ter
ENST00000466222.6:n.1086del
ENST00000561817.5:c.168del	ENSP00000456575.1:p.Trp56Ter
ENST00000562199.1:n.167del
ENST00000564503.5:c.260del
ENST00000565274.5:c.395del	ENSP00000457759.1:n.395del
ENST00000565559.5:c.345del	ENSP00000457878.1:p.Trp115Ter
ENST00000569136.5:c.168del	ENSP00000455254.1:p.Trp56Ter
ENST00000569827.5:c.495del	ENSP00000454379.1:p.Trp165Ter
NM_000070.2:c.2163del	NP_000061.1:p.Trp721Ter
NM_024344.1:c.2145del	NP_077320.1:p.Trp715Ter
NM_173087.1:c.1887del	NP_775110.1:p.Trp629Ter
NM_173088.1:c.627del	NP_775111.1:p.Trp209Ter
NM_173089.1:c.168del	NP_775112.1:p.Trp56Ter
NM_173090.1:c.168del	NP_775113.1:p.Trp56Ter
NM_000070.3:c.2163del MANE Select	NP_000061.1:p.Trp721Ter
NM_024344.2:c.2145del	NP_077320.1:p.Trp715Ter
NM_173087.2:c.1887del	NP_775110.1:p.Trp629Ter
NM_173088.2:c.627del	NP_775111.1:p.Trp209Ter
NM_173089.2:c.168del	NP_775112.1:p.Trp56Ter
NM_173090.2:c.168del	NP_775113.1:p.Trp56Ter