Canonical Allele Identifier: CA9763689

Gene: MKKS

Linked Data

• dbSNP Id: rs768127652
• ExAC: 20:10393740 TG / T
• gnomAD v2: 20-10393740-TG-T
• gnomAD v4: 20-10413092-TG-T
• MyVariant Identifiers: chr20:g.10393741del (hg19) ; chr20:g.10413093del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10413095del , CM000682.2:g.10413095del	GRCh38
NC_000020.10:g.10393743del , CM000682.1:g.10393743del	GRCh37
NC_000020.9:g.10341743del	NCBI36
NG_009109.1:g.26126del
NG_009109.2:g.26126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.422del	ENSP00000498849.1:p.Pro141GlnfsTer18
ENST00000652676.1:n.459-393del
ENST00000347364.7:c.422del MANE Select	ENSP00000246062.4:p.Pro141GlnfsTer18
ENST00000399054.6:c.422del	ENSP00000382008.2:p.Pro141GlnfsTer18
NM_018848.3:c.422del	NP_061336.1:p.Pro141GlnfsTer18
NM_170784.2:c.422del	NP_740754.1:p.Pro141GlnfsTer18
NR_072977.1:n.364-4290del
NR_072977.2:n.347-4290del
NM_170784.3:c.422del MANE Select	NP_740754.1:p.Pro141GlnfsTer18