Canonical Allele Identifier: CA9763683
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2056365
ClinVar RCV Id: RCV002938522 RCV003475455
dbSNP Id: rs751923973
ExAC: 20:10393730 T / TA
gnomAD v2: 20-10393730-T-TA
gnomAD v4: 20-10413082-T-TA
MyVariant Identifiers: chr20:g.10393730_10393731insA (hg19) chr20:g.10413082_10413083insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10413085dup , CM000682.2:g.10413085dup GRCh38
NC_000020.10:g.10393733dup , CM000682.1:g.10393733dup GRCh37
NC_000020.9:g.10341733dup NCBI36
NG_009109.1:g.26136dup
NG_009109.2:g.26136dup

Transcript Alleles

HGVS Amino-acid change
ENST00000651692.1:c.432dup ENSP00000498849.1:p.Ser145Ter
ENST00000652676.1:n.459-383dup
ENST00000347364.7:c.432dup MANE Select ENSP00000246062.4:p.Ser145Ter
ENST00000399054.6:c.432dup ENSP00000382008.2:p.Ser145Ter
NM_018848.3:c.432dup NP_061336.1:p.Ser145Ter
NM_170784.2:c.432dup NP_740754.1:p.Ser145Ter
NR_072977.1:n.364-4280dup
NR_072977.2:n.347-4280dup
NM_170784.3:c.432dup MANE Select NP_740754.1:p.Ser145Ter
Search 100 bp 5'
Search 100 bp 3'