Canonical Allele Identifier: CA9763682
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 803599
ClinVar RCV Id: RCV000990286
dbSNP Id: rs764382536
ExAC: 20:10393728 ACT / A
gnomAD v2: 20-10393728-ACT-A
gnomAD v3: 20-10413080-ACT-A
gnomAD v4: 20-10413080-ACT-A
MyVariant Identifiers: chr20:g.10393729_10393730del (hg19) chr20:g.10413081_10413082del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10413081_10413082del , CM000682.2:g.10413081_10413082del GRCh38
NC_000020.10:g.10393729_10393730del , CM000682.1:g.10393729_10393730del GRCh37
NC_000020.9:g.10341729_10341730del NCBI36
NG_009109.1:g.26137_26138del
NG_009109.2:g.26137_26138del

Transcript Alleles

HGVS Amino-acid change
ENST00000651692.1:c.433_434del ENSP00000498849.1:p.Ser145Ter
ENST00000652676.1:n.459-382_459-381del
ENST00000347364.7:c.433_434del MANE Select ENSP00000246062.4:p.Ser145Ter
ENST00000399054.6:c.433_434del ENSP00000382008.2:p.Ser145Ter
NM_018848.3:c.433_434del NP_061336.1:p.Ser145Ter
NM_170784.2:c.433_434del NP_740754.1:p.Ser145Ter
NR_072977.1:n.364-4279_364-4278del
NR_072977.2:n.347-4279_347-4278del
NM_170784.3:c.433_434del MANE Select NP_740754.1:p.Ser145Ter
Search 100 bp 5'
Search 100 bp 3'