The ANKRD11 gene homepage

General information
Gene symbol ANKRD11
Gene name ankyrin repeat domain 11
Chromosome 16
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_032003.1
Transcript reference NM_013275.5
Exon/intron information NM_013275.5 exon/intron table
Associated with diseases ID, KBGS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 328
Unique public DNA variants reported 288
Individuals with public variants 75
Hidden variants 96
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 30, 2021
Version ANKRD11:210930

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_013275.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/ANKRD11
HGNC 21316
Entrez Gene 29123
PubMed articles ANKRD11
OMIM - Gene 611192
OMIM - Diseases KBGS (syndrome, KBG (KBGS))
HGMD ANKRD11
GeneCards ANKRD11
GeneTests ANKRD11
Orphanet ANKRD11


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002505 16 transcript variant 2 NM_013275.5 NP_037407.4 328


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