Canonical Allele Identifier: CA634801763
Gene: MKKS HGNC NCBI

Linked Data

dbSNP Id: rs1178770226
gnomAD v2: 20-10393587-GC-G
gnomAD v4: 20-10412939-GC-G
MyVariant Identifiers: chr20:g.10393588del (hg19) chr20:g.10412940del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412941del , CM000682.2:g.10412941del GRCh38
NC_000020.10:g.10393589del , CM000682.1:g.10393589del GRCh37
NC_000020.9:g.10341589del NCBI36
NG_009109.1:g.26279del
NG_009109.2:g.26279del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.575del ENSP00000498849.1:p.Gly192AlafsTer5
ENST00000652676.1:n.459-240del
ENST00000347364.7:c.575del MANE Select ENSP00000246062.4:p.Gly192AlafsTer5
ENST00000399054.6:c.575del ENSP00000382008.2:p.Gly192AlafsTer5
NM_018848.3:c.575del NP_061336.1:p.Gly192AlafsTer5
NM_170784.2:c.575del NP_740754.1:p.Gly192AlafsTer5
NR_072977.1:n.364-4137del
NR_072977.2:n.347-4137del
NM_170784.3:c.575del MANE Select NP_740754.1:p.Gly192AlafsTer5
Search 100 bp 5'
Search 100 bp 3'