Canonical Allele Identifier: CA2573156832

Gene: MKKS

Linked Data

• ClinVar Variation Id: 1683700
• ClinVar RCV Id: RCV002244221 ; RCV002502052 ; RCV003221313
• dbSNP Id: rs2122235362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10413081_10413086delinsAA , CM000682.2:g.10413081_10413086delinsAA	GRCh38
NC_000020.10:g.10393729_10393734delinsAA , CM000682.1:g.10393729_10393734delinsAA	GRCh37
NC_000020.9:g.10341729_10341734delinsAA	NCBI36
NG_009109.1:g.26133_26138delinsTT
NG_009109.2:g.26133_26138delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000651692.1:c.429_434delinsTT	ENSP00000498849.1:p.Phe144LeufsTer14
ENST00000652676.1:n.459-386_459-381delinsTT
ENST00000347364.7:c.429_434delinsTT MANE Select	ENSP00000246062.4:p.Phe144LeufsTer14
ENST00000399054.6:c.429_434delinsTT	ENSP00000382008.2:p.Phe144LeufsTer14
NM_018848.3:c.429_434delinsTT	NP_061336.1:p.Phe144LeufsTer14
NM_170784.2:c.429_434delinsTT	NP_740754.1:p.Phe144LeufsTer14
NR_072977.1:n.364-4283_364-4278delinsTT
NR_072977.2:n.347-4283_347-4278delinsTT
NM_170784.3:c.429_434delinsTT MANE Select	NP_740754.1:p.Phe144LeufsTer14