Canonical Allele Identifier: CA9763684
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 803600
ClinVar RCV Id: RCV000990287
dbSNP Id: rs762222223
ExAC: 20:10393732 AAG / A
gnomAD v2: 20-10393732-AAG-A
gnomAD v3: 20-10413084-AAG-A
gnomAD v4: 20-10413084-AAG-A
MyVariant Identifiers: chr20:g.10393733_10393734del (hg19) chr20:g.10413085_10413086del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10413085_10413086del , CM000682.2:g.10413085_10413086del GRCh38
NC_000020.10:g.10393733_10393734del , CM000682.1:g.10393733_10393734del GRCh37
NC_000020.9:g.10341733_10341734del NCBI36
NG_009109.1:g.26133_26134del
NG_009109.2:g.26133_26134del

Transcript Alleles

HGVS Amino-acid change
ENST00000651692.1:c.429_430del ENSP00000498849.1:p.Phe144Ter
ENST00000652676.1:n.459-386_459-385del
ENST00000347364.7:c.429_430del MANE Select ENSP00000246062.4:p.Phe144Ter
ENST00000399054.6:c.429_430del ENSP00000382008.2:p.Phe144Ter
NM_018848.3:c.429_430del NP_061336.1:p.Phe144Ter
NM_170784.2:c.429_430del NP_740754.1:p.Phe144Ter
NR_072977.1:n.364-4283_364-4282del
NR_072977.2:n.347-4283_347-4282del
NM_170784.3:c.429_430del MANE Select NP_740754.1:p.Phe144Ter
Search 100 bp 5'
Search 100 bp 3'