Canonical Allele Identifier: CA2349780718
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 1431638
ClinVar RCV Id: RCV001940848 RCV003471075
dbSNP Id: rs2064897670
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412575_10412576del , CM000682.2:g.10412575_10412576del GRCh38
NC_000020.10:g.10393223_10393224del , CM000682.1:g.10393223_10393224del GRCh37
NC_000020.9:g.10341223_10341224del NCBI36
NG_009109.1:g.26644_26645del
NG_009109.2:g.26644_26645del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.940_941del ENSP00000498849.1:p.Asp314GlnfsTer12
ENST00000652676.1:n.584_585del
ENST00000347364.7:c.940_941del MANE Select ENSP00000246062.4:p.Asp314GlnfsTer12
ENST00000399054.6:c.940_941del ENSP00000382008.2:p.Asp314GlnfsTer12
NM_018848.3:c.940_941del NP_061336.1:p.Asp314GlnfsTer12
NM_170784.2:c.940_941del NP_740754.1:p.Asp314GlnfsTer12
NR_072977.1:n.364-3772_364-3771del
NR_072977.2:n.347-3772_347-3771del
NM_170784.3:c.940_941del MANE Select NP_740754.1:p.Asp314GlnfsTer12
Search 100 bp 5'
Search 100 bp 3'