Canonical Allele Identifier: CA9763655
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 562324
ClinVar RCV Id: RCV000681772
dbSNP Id: rs762613490
ExAC: 20:10393537 ACT / A
gnomAD v2: 20-10393537-ACT-A
gnomAD v4: 20-10412889-ACT-A
MyVariant Identifiers: chr20:g.10393538_10393539del (hg19) chr20:g.10412890_10412891del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412892_10412893del , CM000682.2:g.10412892_10412893del GRCh38
NC_000020.10:g.10393540_10393541del , CM000682.1:g.10393540_10393541del GRCh37
NC_000020.9:g.10341540_10341541del NCBI36
NG_009109.1:g.26328_26329del
NG_009109.2:g.26328_26329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.624_625del ENSP00000498849.1:p.Arg208SerfsTer13
ENST00000652676.1:n.459-191_459-190del
ENST00000347364.7:c.624_625del MANE Select ENSP00000246062.4:p.Arg208SerfsTer13
ENST00000399054.6:c.624_625del ENSP00000382008.2:p.Arg208SerfsTer13
NM_018848.3:c.624_625del NP_061336.1:p.Arg208SerfsTer13
NM_170784.2:c.624_625del NP_740754.1:p.Arg208SerfsTer13
NR_072977.1:n.364-4088_364-4087del
NR_072977.2:n.347-4088_347-4087del
NM_170784.3:c.624_625del MANE Select NP_740754.1:p.Arg208SerfsTer13
Search 100 bp 5'
Search 100 bp 3'