Canonical Allele Identifier: CA9763599

Gene: MKKS

Linked Data

• ClinVar Variation Id: 1712273
• ClinVar RCV Id: RCV002294547 ; RCV003774985
• dbSNP Id: rs746888009
• ExAC: 20:10393202 TCAGAGTCACTC / T
• gnomAD v2: 20-10393202-TCAGAGTCACTC-T
• MyVariant Identifiers: chr20:g.10393203_10393213del (hg19) ; chr20:g.10412555_10412565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412557_10412567del , CM000682.2:g.10412557_10412567del	GRCh38
NC_000020.10:g.10393205_10393215del , CM000682.1:g.10393205_10393215del	GRCh37
NC_000020.9:g.10341205_10341215del	NCBI36
NG_009109.1:g.26654_26664del
NG_009109.2:g.26654_26664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.950_960del	ENSP00000498849.1:p.Gly317AspfsTer6
ENST00000652676.1:n.594_604del
ENST00000347364.7:c.950_960del MANE Select	ENSP00000246062.4:p.Gly317AspfsTer6
ENST00000399054.6:c.950_960del	ENSP00000382008.2:p.Gly317AspfsTer6
NM_018848.3:c.950_960del	NP_061336.1:p.Gly317AspfsTer6
NM_170784.2:c.950_960del	NP_740754.1:p.Gly317AspfsTer6
NR_072977.1:n.364-3762_364-3752del
NR_072977.2:n.347-3762_347-3752del
NM_170784.3:c.950_960del MANE Select	NP_740754.1:p.Gly317AspfsTer6