Canonical Allele Identifier: CA2651912307
Gene: MKKS HGNC NCBI

Linked Data

gnomAD v4: 20-10412821-GTAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412824_10412826del , CM000682.2:g.10412824_10412826del GRCh38
NC_000020.10:g.10393472_10393474del , CM000682.1:g.10393472_10393474del GRCh37
NC_000020.9:g.10341472_10341474del NCBI36
NG_009109.1:g.26395_26397del
NG_009109.2:g.26395_26397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.691_693del ENSP00000498849.1:p.Leu231del
ENST00000652676.1:n.459-124_459-122del
ENST00000347364.7:c.691_693del MANE Select ENSP00000246062.4:p.Leu231del
ENST00000399054.6:c.691_693del ENSP00000382008.2:p.Leu231del
NM_018848.3:c.691_693del NP_061336.1:p.Leu231del
NM_170784.2:c.691_693del NP_740754.1:p.Leu231del
NR_072977.1:n.364-4021_364-4019del
NR_072977.2:n.347-4021_347-4019del
NM_170784.3:c.691_693del MANE Select NP_740754.1:p.Leu231del
Search 100 bp 5'
Search 100 bp 3'