Canonical Allele Identifier: CA741041335

Gene: MKKS

Linked Data

• ClinVar Variation Id: 960365
• ClinVar RCV Id: RCV001233877
• dbSNP Id: rs1225932577
• MyVariant Identifiers: chr20:g.10393728_10393731del (hg19) ; chr20:g.10413080_10413083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10413081_10413084del , CM000682.2:g.10413081_10413084del	GRCh38
NC_000020.10:g.10393729_10393732del , CM000682.1:g.10393729_10393732del	GRCh37
NC_000020.9:g.10341729_10341732del	NCBI36
NG_009109.1:g.26136_26139del
NG_009109.2:g.26136_26139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651692.1:c.432_435del	ENSP00000498849.1:p.Phe144LeufsTer14
ENST00000652676.1:n.459-383_459-380del
ENST00000347364.7:c.432_435del MANE Select	ENSP00000246062.4:p.Phe144LeufsTer14
ENST00000399054.6:c.432_435del	ENSP00000382008.2:p.Phe144LeufsTer14
NM_018848.3:c.432_435del	NP_061336.1:p.Phe144LeufsTer14
NM_170784.2:c.432_435del	NP_740754.1:p.Phe144LeufsTer14
NR_072977.1:n.364-4280_364-4277del
NR_072977.2:n.347-4280_347-4277del
NM_170784.3:c.432_435del MANE Select	NP_740754.1:p.Phe144LeufsTer14