Canonical Allele Identifier: CA2739264860
Gene: HSD17B3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2834458
ClinVar RCV Id: RCV003694497

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96298475_96298478dup , CM000671.2:g.96298475_96298478dup GRCh38
NC_000009.11:g.99060757_99060760dup , CM000671.1:g.99060757_99060760dup GRCh37
NC_000009.10:g.98100578_98100581dup NCBI36
NG_008157.1:g.8676_8679dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.155-15_155-12dup ENSP00000364411.2:n.155-15_155-12dup
ENST00000375263.8:c.155-15_155-12dup MANE Select ENSP00000364412.3:n.155-15_155-12dup
ENST00000463517.2:n.964-15_964-12dup
ENST00000464104.6:n.625-15_625-12dup
ENST00000467499.6:c.155-15_155-12dup ENSP00000498077.1:n.155-15_155-12dup
ENST00000643789.1:c.2447-15_2447-12dup
ENST00000648146.1:c.155-15_155-12dup ENSP00000497238.1:n.155-15_155-12dup
ENST00000648332.1:c.155-15_155-12dup ENSP00000497562.1:n.155-15_155-12dup
ENST00000648799.1:c.155-15_155-12dup ENSP00000498039.1:n.155-15_155-12dup
ENST00000650005.1:c.155-15_155-12dup ENSP00000498121.1:n.155-15_155-12dup
ENST00000650386.1:c.155-15_155-12dup ENSP00000497464.1:n.155-15_155-12dup
ENST00000375262.3:c.155-15_155-12dup ENSP00000364411.2:n.155-15_155-12dup
ENST00000375263.7:c.155-15_155-12dup ENSP00000364412.3:n.155-15_155-12dup
NM_000197.1:c.155-15_155-12dup NP_000188.1:n.155-15_155-12dup
XM_006717095.2:c.155-15_155-12dup XP_006717158.1:n.155-15_155-12dup
XM_011518618.1:c.155-15_155-12dup XP_011516920.1:n.155-15_155-12dup
XM_011518619.1:c.155-15_155-12dup XP_011516921.1:n.155-15_155-12dup
XM_011518620.1:c.155-15_155-12dup XP_011516922.1:n.155-15_155-12dup
XM_011518621.1:c.155-15_155-12dup XP_011516923.1:n.155-15_155-12dup
NM_000197.2:c.155-15_155-12dup MANE Select NP_000188.1:n.155-15_155-12dup
XM_011518618.2:c.155-15_155-12dup XP_011516920.1:n.155-15_155-12dup
XM_011518619.2:c.155-15_155-12dup XP_011516921.1:n.155-15_155-12dup
XM_017014671.1:c.155-15_155-12dup XP_016870160.1:n.155-15_155-12dup
XM_017014672.1:c.155-15_155-12dup XP_016870161.1:n.155-15_155-12dup
XM_017014673.2:c.155-15_155-12dup XP_016870162.1:n.155-15_155-12dup
XM_017014674.1:c.155-15_155-12dup XP_016870163.1:n.155-15_155-12dup
XM_017014675.1:c.69-15_69-12dup XP_016870164.1:n.69-15_69-12dup
XM_017014677.1:c.-782-15_-782-12dup XP_016870166.1:n.-782-15_-782-12dup
XM_024447529.1:c.69-15_69-12dup XP_024303297.1:n.69-15_69-12dup
XR_002956778.1:n.2589-15_2589-12dup