Canonical Allele Identifier: CA2697547306

Gene: MKKS

Linked Data

• ClinVar Variation Id: 2691703
• ClinVar RCV Id: RCV003486528

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412634dup , CM000682.2:g.10412634dup	GRCh38
NC_000020.10:g.10393282dup , CM000682.1:g.10393282dup	GRCh37
NC_000020.9:g.10341282dup	NCBI36
NG_009109.1:g.26589dup
NG_009109.2:g.26589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.885dup	ENSP00000498849.1:p.Val296SerfsTer?
ENST00000652676.1:n.529dup
ENST00000347364.7:c.885dup MANE Select	ENSP00000246062.4:p.Val296SerfsTer?
ENST00000399054.6:c.885dup	ENSP00000382008.2:p.Val296SerfsTer?
NM_018848.3:c.885dup	NP_061336.1:p.Val296SerfsTer?
NM_170784.2:c.885dup	NP_740754.1:p.Val296SerfsTer?
NR_072977.1:n.364-3827dup
NR_072977.2:n.347-3827dup
NM_170784.3:c.885dup MANE Select	NP_740754.1:p.Val296SerfsTer?