Canonical Allele Identifier: CA658823858

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 553010
• ClinVar RCV Id: RCV000668371
• dbSNP Id: rs1555417278
• gnomAD v3: 15-42359877-TCACCCGGCC-T
• gnomAD v4: 15-42359877-TCACCCGGCC-T
• MyVariant Identifiers: chr15:g.42359880_42359888del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359880_42359888del , CM000677.2:g.42359880_42359888del	GRCh38
NC_000015.9:g.42652078_42652086del , CM000677.1:g.42652078_42652086del	GRCh37
NC_000015.8:g.40439370_40439378del	NCBI36
NG_008660.1:g.16778_16786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.75_83del	ENSP00000183936.4:p.His25_Ala27del
ENST00000357568.8:c.75_83del	ENSP00000350181.3:p.His25_Ala27del
ENST00000397163.8:c.75_83del MANE Select	ENSP00000380349.3:p.His25_Ala27del
ENST00000466369.5:n.540+5427_540+5435del
ENST00000483208.5:n.540+5427_540+5435del
ENST00000495723.1:n.540+5427_540+5435del
ENST00000549793.5:n.540+5427_540+5435del
ENST00000318023.11:c.75_83del	ENSP00000326281.8:p.His25_Ala27del
ENST00000349748.7:c.75_83del	ENSP00000183936.4:p.His25_Ala27del
ENST00000357568.7:c.75_83del	ENSP00000350181.3:p.His25_Ala27del
ENST00000397163.7:c.75_83del	ENSP00000380349.3:p.His25_Ala27del
NM_000070.2:c.75_83del	NP_000061.1:p.His25_Ala27del
NM_024344.1:c.75_83del	NP_077320.1:p.His25_Ala27del
NM_173087.1:c.75_83del	NP_775110.1:p.His25_Ala27del
NM_000070.3:c.75_83del MANE Select	NP_000061.1:p.His25_Ala27del
NM_024344.2:c.75_83del	NP_077320.1:p.His25_Ala27del
NM_173087.2:c.75_83del	NP_775110.1:p.His25_Ala27del