Canonical Allele Identifier: CA2608250420
Gene: DHTKD1 HGNC NCBI

Linked Data

gnomAD v4: 10-12107853-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107855del , CM000672.2:g.12107855del GRCh38
NC_000010.10:g.12149854del , CM000672.1:g.12149854del GRCh37
NC_000010.9:g.12189860del NCBI36
NG_033248.1:g.43939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-54del MANE Select ENSP00000263035.4:n.2048-54del
ENST00000263035.8:c.2048-54del ENSP00000263035.4:n.2048-54del
ENST00000448829.1:c.551-54del
NM_018706.6:c.2048-54del NP_061176.3:n.2048-54del
NM_018706.7:c.2048-54del MANE Select NP_061176.4:n.2048-54del
Search 100 bp 5'
Search 100 bp 3'