Canonical Allele Identifier: CA1865987784

Gene: HSD17B3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244355_96244361delinsATTCCTC , CM000671.2:g.96244355_96244361delinsATTCCTC	GRCh38
NC_000009.11:g.99006637_99006643delinsATTCCTC , CM000671.1:g.99006637_99006643delinsATTCCTC	GRCh37
NC_000009.10:g.98046458_98046464delinsATTCCTC	NCBI36
NG_008157.1:g.62792_62798delinsGAGGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.640_646delinsGAGGAAT	ENSP00000364411.2:p.Glu214=
ENST00000375263.8:c.640_646delinsGAGGAAT MANE Select	ENSP00000364412.3:p.Glu214=
ENST00000463517.2:n.2182_2188delinsGAGGAAT
ENST00000464104.6:n.1578_1584delinsGAGGAAT
ENST00000467499.6:c.*339_*345delinsGAGGAAT	ENSP00000498077.1:n.*339_*345delinsGAGGAAT
ENST00000494814.6:n.152_158delinsGAGGAAT
ENST00000643789.1:c.2932_2938delinsGAGGAAT
ENST00000648146.1:c.640_646delinsGAGGAAT	ENSP00000497238.1:p.Glu214=
ENST00000648332.1:c.317_323delinsGAGGAAT	ENSP00000497562.1:p.Arg106=
ENST00000648799.1:c.532_538delinsGAGGAAT	ENSP00000498039.1:p.Glu178=
ENST00000650005.1:c.569_575delinsGAGGAAT	ENSP00000498121.1:p.Arg190=
ENST00000375262.3:c.640_646delinsGAGGAAT	ENSP00000364411.2:p.Glu214=
ENST00000375263.7:c.640_646delinsGAGGAAT	ENSP00000364412.3:p.Glu214=
ENST00000464104.5:n.493_499delinsGAGGAAT
ENST00000494814.5:n.161_167delinsGAGGAAT
NM_000197.1:c.640_646delinsGAGGAAT	NP_000188.1:p.Glu214=
XM_005251970.3:c.280_286delinsGAGGAAT	XP_005252027.1:p.Glu94=
XM_011518618.1:c.640_646delinsGAGGAAT	XP_011516920.1:p.Glu214=
XM_011518619.1:c.640_646delinsGAGGAAT	XP_011516921.1:p.Glu214=
XM_011518620.1:c.532_538delinsGAGGAAT	XP_011516922.1:p.Glu178=
XM_011518621.1:c.640_646delinsGAGGAAT	XP_011516923.1:p.Glu214=
NM_000197.2:c.640_646delinsGAGGAAT MANE Select	NP_000188.1:p.Glu214=
XM_011518618.2:c.640_646delinsGAGGAAT	XP_011516920.1:p.Glu214=
XM_011518619.2:c.640_646delinsGAGGAAT	XP_011516921.1:p.Glu214=
XM_017014671.1:c.640_646delinsGAGGAAT	XP_016870160.1:p.Glu214=
XM_017014672.1:c.640_646delinsGAGGAAT	XP_016870161.1:p.Glu214=
XM_017014673.2:c.604_610delinsGAGGAAT	XP_016870162.1:p.Glu202=
XM_017014674.1:c.532_538delinsGAGGAAT	XP_016870163.1:p.Glu178=
XM_017014675.1:c.478_484delinsGAGGAAT	XP_016870164.1:p.Glu160=
XM_017014677.1:c.280_286delinsGAGGAAT	XP_016870166.1:p.Glu94=
XM_024447529.1:c.478_484delinsGAGGAAT	XP_024303297.1:p.Glu160=
XR_002956778.1:n.3074_3080delinsGAGGAAT