Canonical Allele Identifier: CA2349780875
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 988194
ClinVar RCV Id: RCV001328207
dbSNP Id: rs2064903228
gnomAD v4: 20-10412921-CTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412923_10412924del , CM000682.2:g.10412923_10412924del GRCh38
NC_000020.10:g.10393571_10393572del , CM000682.1:g.10393571_10393572del GRCh37
NC_000020.9:g.10341571_10341572del NCBI36
NG_009109.1:g.26296_26297del
NG_009109.2:g.26296_26297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.592_593del ENSP00000498849.1:p.Lys198GlufsTer23
ENST00000652676.1:n.459-223_459-222del
ENST00000347364.7:c.592_593del MANE Select ENSP00000246062.4:p.Lys198GlufsTer23
ENST00000399054.6:c.592_593del ENSP00000382008.2:p.Lys198GlufsTer23
NM_018848.3:c.592_593del NP_061336.1:p.Lys198GlufsTer23
NM_170784.2:c.592_593del NP_740754.1:p.Lys198GlufsTer23
NR_072977.1:n.364-4120_364-4119del
NR_072977.2:n.347-4120_347-4119del
NM_170784.3:c.592_593del MANE Select NP_740754.1:p.Lys198GlufsTer23
Search 100 bp 5'
Search 100 bp 3'