Canonical Allele Identifier: CA618001479

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1069199
• ClinVar RCV Id: RCV001380972 ; RCV003462970
• dbSNP Id: rs1566965857
• gnomAD v2: 15-42652062-CA-C
• gnomAD v4: 15-42359864-CA-C
• MyVariant Identifiers: chr15:g.42652063del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359865del , CM000677.2:g.42359865del	GRCh38
NC_000015.9:g.42652063del , CM000677.1:g.42652063del	GRCh37
NC_000015.8:g.40439355del	NCBI36
NG_008660.1:g.16763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.60del	ENSP00000183936.4:p.Pro22GlnfsTer?
ENST00000357568.8:c.60del	ENSP00000350181.3:p.Pro22GlnfsTer?
ENST00000397163.8:c.60del MANE Select	ENSP00000380349.3:p.Pro22GlnfsTer?
ENST00000466369.5:n.540+5412del
ENST00000483208.5:n.540+5412del
ENST00000495723.1:n.540+5412del
ENST00000549793.5:n.540+5412del
ENST00000318023.11:c.60del	ENSP00000326281.8:p.Pro22GlnfsTer?
ENST00000349748.7:c.60del	ENSP00000183936.4:p.Pro22GlnfsTer?
ENST00000357568.7:c.60del	ENSP00000350181.3:p.Pro22GlnfsTer?
ENST00000397163.7:c.60del	ENSP00000380349.3:p.Pro22GlnfsTer?
NM_000070.2:c.60del	NP_000061.1:p.Pro22GlnfsTer?
NM_024344.1:c.60del	NP_077320.1:p.Pro22GlnfsTer?
NM_173087.1:c.60del	NP_775110.1:p.Pro22GlnfsTer?
NM_000070.3:c.60del MANE Select	NP_000061.1:p.Pro22GlnfsTer?
NM_024344.2:c.60del	NP_077320.1:p.Pro22GlnfsTer?
NM_173087.2:c.60del	NP_775110.1:p.Pro22GlnfsTer?