Canonical Allele Identifier: CA2608250374
Gene: DHTKD1 HGNC NCBI

Linked Data

gnomAD v4: 10-12107799-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107803del , CM000672.2:g.12107803del GRCh38
NC_000010.10:g.12149802del , CM000672.1:g.12149802del GRCh37
NC_000010.9:g.12189808del NCBI36
NG_033248.1:g.43887del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-106del MANE Select ENSP00000263035.4:n.2048-106del
ENST00000263035.8:c.2048-106del ENSP00000263035.4:n.2048-106del
ENST00000448829.1:c.551-106del
NM_018706.6:c.2048-106del NP_061176.3:n.2048-106del
NM_018706.7:c.2048-106del MANE Select NP_061176.4:n.2048-106del
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