Canonical Allele Identifier: CA196614352

Gene: HSD17B3

Linked Data

• dbSNP Id: rs900648254
• gnomAD v3: 9-96298755-CAG-C
• gnomAD v4: 9-96298755-CAG-C
• MyVariant Identifiers: chr9:g.99061038_99061039del (hg19) ; chr9:g.96298756_96298757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96298757_96298758del , CM000671.2:g.96298757_96298758del	GRCh38
NC_000009.11:g.99061039_99061040del , CM000671.1:g.99061039_99061040del	GRCh37
NC_000009.10:g.98100860_98100861del	NCBI36
NG_008157.1:g.8396_8397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.155-295_155-294del	ENSP00000364411.2:n.155-295_155-294del
ENST00000375263.8:c.155-295_155-294del MANE Select	ENSP00000364412.3:n.155-295_155-294del
ENST00000463517.2:n.964-295_964-294del
ENST00000464104.6:n.625-295_625-294del
ENST00000467499.6:c.155-295_155-294del	ENSP00000498077.1:n.155-295_155-294del
ENST00000643789.1:c.2447-295_2447-294del
ENST00000648146.1:c.155-295_155-294del	ENSP00000497238.1:n.155-295_155-294del
ENST00000648332.1:c.155-295_155-294del	ENSP00000497562.1:n.155-295_155-294del
ENST00000648799.1:c.155-295_155-294del	ENSP00000498039.1:n.155-295_155-294del
ENST00000650005.1:c.155-295_155-294del	ENSP00000498121.1:n.155-295_155-294del
ENST00000650386.1:c.155-295_155-294del	ENSP00000497464.1:n.155-295_155-294del
ENST00000375262.3:c.155-295_155-294del	ENSP00000364411.2:n.155-295_155-294del
ENST00000375263.7:c.155-295_155-294del	ENSP00000364412.3:n.155-295_155-294del
NM_000197.1:c.155-295_155-294del	NP_000188.1:n.155-295_155-294del
XM_006717095.2:c.155-295_155-294del	XP_006717158.1:n.155-295_155-294del
XM_011518618.1:c.155-295_155-294del	XP_011516920.1:n.155-295_155-294del
XM_011518619.1:c.155-295_155-294del	XP_011516921.1:n.155-295_155-294del
XM_011518620.1:c.155-295_155-294del	XP_011516922.1:n.155-295_155-294del
XM_011518621.1:c.155-295_155-294del	XP_011516923.1:n.155-295_155-294del
NM_000197.2:c.155-295_155-294del MANE Select	NP_000188.1:n.155-295_155-294del
XM_011518618.2:c.155-295_155-294del	XP_011516920.1:n.155-295_155-294del
XM_011518619.2:c.155-295_155-294del	XP_011516921.1:n.155-295_155-294del
XM_017014671.1:c.155-295_155-294del	XP_016870160.1:n.155-295_155-294del
XM_017014672.1:c.155-295_155-294del	XP_016870161.1:n.155-295_155-294del
XM_017014673.2:c.155-295_155-294del	XP_016870162.1:n.155-295_155-294del
XM_017014674.1:c.155-295_155-294del	XP_016870163.1:n.155-295_155-294del
XM_017014675.1:c.69-295_69-294del	XP_016870164.1:n.69-295_69-294del
XM_017014677.1:c.-782-295_-782-294del	XP_016870166.1:n.-782-295_-782-294del
XM_024447529.1:c.69-295_69-294del	XP_024303297.1:n.69-295_69-294del
XR_002956778.1:n.2589-295_2589-294del