Canonical Allele Identifier: CA2574503488
Gene: DHTKD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107815_12107822del , CM000672.2:g.12107815_12107822del GRCh38
NC_000010.10:g.12149814_12149821del , CM000672.1:g.12149814_12149821del GRCh37
NC_000010.9:g.12189820_12189827del NCBI36
NG_033248.1:g.43899_43906del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-94_2048-87del MANE Select ENSP00000263035.4:n.2048-94_2048-87del
ENST00000263035.8:c.2048-94_2048-87del ENSP00000263035.4:n.2048-94_2048-87del
ENST00000448829.1:c.551-94_551-87del
NM_018706.6:c.2048-94_2048-87del NP_061176.3:n.2048-94_2048-87del
NM_018706.7:c.2048-94_2048-87del MANE Select NP_061176.4:n.2048-94_2048-87del
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