Canonical Allele Identifier: CA2651912402
Gene: MKKS HGNC NCBI

Linked Data

gnomAD v4: 20-10412892-CTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412894_10412895del , CM000682.2:g.10412894_10412895del GRCh38
NC_000020.10:g.10393542_10393543del , CM000682.1:g.10393542_10393543del GRCh37
NC_000020.9:g.10341542_10341543del NCBI36
NG_009109.1:g.26325_26326del
NG_009109.2:g.26325_26326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.621_622del ENSP00000498849.1:p.Arg208SerfsTer13
ENST00000652676.1:n.459-194_459-193del
ENST00000347364.7:c.621_622del MANE Select ENSP00000246062.4:p.Arg208SerfsTer13
ENST00000399054.6:c.621_622del ENSP00000382008.2:p.Arg208SerfsTer13
NM_018848.3:c.621_622del NP_061336.1:p.Arg208SerfsTer13
NM_170784.2:c.621_622del NP_740754.1:p.Arg208SerfsTer13
NR_072977.1:n.364-4091_364-4090del
NR_072977.2:n.347-4091_347-4090del
NM_170784.3:c.621_622del MANE Select NP_740754.1:p.Arg208SerfsTer13
Search 100 bp 5'
Search 100 bp 3'