Canonical Allele Identifier: CA2608250379
Gene: DHTKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107808_12107809del , CM000672.2:g.12107808_12107809del GRCh38
NC_000010.10:g.12149807_12149808del , CM000672.1:g.12149807_12149808del GRCh37
NC_000010.9:g.12189813_12189814del NCBI36
NG_033248.1:g.43892_43893del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-101_2048-100del MANE Select ENSP00000263035.4:n.2048-101_2048-100del
ENST00000263035.8:c.2048-101_2048-100del ENSP00000263035.4:n.2048-101_2048-100del
ENST00000448829.1:c.551-101_551-100del
NM_018706.6:c.2048-101_2048-100del NP_061176.3:n.2048-101_2048-100del
NM_018706.7:c.2048-101_2048-100del MANE Select NP_061176.4:n.2048-101_2048-100del