Canonical Allele Identifier: CA2695201379
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2676537
ClinVar RCV Id: RCV003476468
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412629del , CM000682.2:g.10412629del GRCh38
NC_000020.10:g.10393277del , CM000682.1:g.10393277del GRCh37
NC_000020.9:g.10341277del NCBI36
NG_009109.1:g.26590del
NG_009109.2:g.26590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.886del ENSP00000498849.1:p.Val296LeufsTer6
ENST00000652676.1:n.530del
ENST00000347364.7:c.886del MANE Select ENSP00000246062.4:p.Val296LeufsTer6
ENST00000399054.6:c.886del ENSP00000382008.2:p.Val296LeufsTer6
NM_018848.3:c.886del NP_061336.1:p.Val296LeufsTer6
NM_170784.2:c.886del NP_740754.1:p.Val296LeufsTer6
NR_072977.1:n.364-3826del
NR_072977.2:n.347-3826del
NM_170784.3:c.886del MANE Select NP_740754.1:p.Val296LeufsTer6
Search 100 bp 5'
Search 100 bp 3'