Canonical Allele Identifier: CA591543817
Gene: DHTKD1 HGNC NCBI
gnomAD v2:
10:12123501 T / TA
gnomAD v3:
10:12081502 T / TA
gnomAD v4:
chr10-12081502-T-TA
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV001916888
ClinVar Variation:
1421380
dbSNP:
1383399355
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12081503dup , CM000672.2:g.12081503dup GRCh38
NC_000010.10:g.12123502dup , CM000672.1:g.12123502dup GRCh37
NC_000010.9:g.12163508dup NCBI36
NG_033248.1:g.17587dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.186dup MANE Select ENSP00000263035.4:p.Tyr63IlefsTer3
ENST00000263035.8:c.186dup ENSP00000263035.4:p.Tyr63IlefsTer3
ENST00000437298.1:c.186dup ENSP00000388163.1:p.Tyr63IlefsTer3
NM_018706.6:c.186dup NP_061176.3:p.Tyr63IlefsTer3
NM_018706.7:c.186dup MANE Select NP_061176.4:p.Tyr63IlefsTer3
Search 100 bp 5'
Search 100 bp 3'