Canonical Allele Identifier: CA7511364

Gene: CAPN3

Linked Data

• dbSNP Id: rs775969976
• ExAC: 15:42693952 C / CT
• gnomAD v2: 15-42693952-C-CT
• gnomAD v3: 15-42401754-C-CT
• gnomAD v4: 15-42401754-C-CT
• MyVariant Identifiers: chr15:g.42693952_42693953insT (hg19) ; chr15:g.42401754_42401755insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401754_42401755insT , CM000677.2:g.42401754_42401755insT	GRCh38
NC_000015.9:g.42693952_42693953insT , CM000677.1:g.42693952_42693953insT	GRCh37
NC_000015.8:g.40481244_40481245insT	NCBI36
NG_008660.1:g.58652_58653insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.1324_1325insT	ENSP00000183936.4:p.Arg442LeufsTer?
ENST00000357568.8:c.1468_1469insT	ENSP00000350181.3:p.Arg490LeufsTer?
ENST00000397163.8:c.1468_1469insT MANE Select	ENSP00000380349.3:p.Arg490LeufsTer?
ENST00000466369.5:n.1977_1978insT
ENST00000483208.5:n.1699_1700insT
ENST00000495723.1:n.1699_1700insT
ENST00000549793.5:n.1699_1700insT
ENST00000638141.2:n.1339_1340insT
ENST00000673705.1:c.309+2102_309+2103insT	ENSP00000501021.1:n.309+2102_309+2103insT...
ENST00000318023.11:c.1324_1325insT	ENSP00000326281.8:p.Arg442LeufsTer?
ENST00000349748.7:c.1324_1325insT	ENSP00000183936.4:p.Arg442LeufsTer?
ENST00000357568.7:c.1468_1469insT	ENSP00000350181.3:p.Arg490LeufsTer?
ENST00000397163.7:c.1468_1469insT	ENSP00000380349.3:p.Arg490LeufsTer?
NM_000070.2:c.1468_1469insT	NP_000061.1:p.Arg490LeufsTer?
NM_024344.1:c.1468_1469insT	NP_077320.1:p.Arg490LeufsTer?
NM_173087.1:c.1324_1325insT	NP_775110.1:p.Arg442LeufsTer?
NM_000070.3:c.1468_1469insT MANE Select	NP_000061.1:p.Arg490LeufsTer?
NM_024344.2:c.1468_1469insT	NP_077320.1:p.Arg490LeufsTer?
NM_173087.2:c.1324_1325insT	NP_775110.1:p.Arg442LeufsTer?