Canonical Allele Identifier: CA660765676
Gene: DHTKD1 HGNC NCBI

Linked Data

dbSNP Id: rs1375524252
gnomAD v3: 10-12107900-CTTTTCCAGGAG-C
gnomAD v4: 10-12107900-CTTTTCCAGGAG-C
MyVariant Identifiers: chr10:g.12149900_12149910del (hg19) chr10:g.12107901_12107911del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107901_12107911del , CM000672.2:g.12107901_12107911del GRCh38
NC_000010.10:g.12149900_12149910del , CM000672.1:g.12149900_12149910del GRCh37
NC_000010.9:g.12189906_12189916del NCBI36
NG_033248.1:g.43985_43995del

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2048-8_2050del
ENST00000263035.8:c.2048-8_2050del
ENST00000448829.1:c.551-8_553del
NM_018706.6:c.2048-8_2050del
NM_018706.7:c.2048-8_2050del
Search 100 bp 5'
Search 100 bp 3'