Canonical Allele Identifier: CA2580080741

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 1943775
• ClinVar RCV Id: RCV002663009

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96298457_96298458insA , CM000671.2:g.96298457_96298458insA	GRCh38
NC_000009.11:g.99060739_99060740insA , CM000671.1:g.99060739_99060740insA	GRCh37
NC_000009.10:g.98100560_98100561insA	NCBI36
NG_008157.1:g.8695_8696insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.159_160insT	ENSP00000364411.2:p.Thr54TyrfsTer26
ENST00000375263.8:c.159_160insT MANE Select	ENSP00000364412.3:p.Thr54TyrfsTer26
ENST00000463517.2:n.968_969insT
ENST00000464104.6:n.629_630insT
ENST00000467499.6:c.159_160insT	ENSP00000498077.1:p.Thr54TyrfsTer?
ENST00000643789.1:c.2451_2452insT
ENST00000648146.1:c.159_160insT	ENSP00000497238.1:p.Thr54TyrfsTer26
ENST00000648332.1:c.159_160insT	ENSP00000497562.1:p.Thr54TyrfsTer21
ENST00000648799.1:c.159_160insT	ENSP00000498039.1:p.Thr54TyrfsTer26
ENST00000650005.1:c.159_160insT	ENSP00000498121.1:p.Thr54TyrfsTer26
ENST00000650386.1:c.159_160insT	ENSP00000497464.1:p.Thr54TyrfsTer26
ENST00000375262.3:c.159_160insT	ENSP00000364411.2:p.Thr54TyrfsTer26
ENST00000375263.7:c.159_160insT	ENSP00000364412.3:p.Thr54TyrfsTer26
NM_000197.1:c.159_160insT	NP_000188.1:p.Thr54TyrfsTer26
XM_006717095.2:c.159_160insT	XP_006717158.1:p.Thr54TyrfsTer26
XM_011518618.1:c.159_160insT	XP_011516920.1:p.Thr54TyrfsTer26
XM_011518619.1:c.159_160insT	XP_011516921.1:p.Thr54TyrfsTer26
XM_011518620.1:c.159_160insT	XP_011516922.1:p.Thr54TyrfsTer26
XM_011518621.1:c.159_160insT	XP_011516923.1:p.Thr54TyrfsTer26
NM_000197.2:c.159_160insT MANE Select	NP_000188.1:p.Thr54TyrfsTer26
XM_011518618.2:c.159_160insT	XP_011516920.1:p.Thr54TyrfsTer26
XM_011518619.2:c.159_160insT	XP_011516921.1:p.Thr54TyrfsTer26
XM_017014671.1:c.159_160insT	XP_016870160.1:p.Thr54TyrfsTer26
XM_017014672.1:c.159_160insT	XP_016870161.1:p.Thr54TyrfsTer26
XM_017014673.2:c.159_160insT	XP_016870162.1:p.Thr54TyrfsTer26
XM_017014674.1:c.159_160insT	XP_016870163.1:p.Thr54TyrfsTer26
XM_017014675.1:c.73_74insT	XP_016870164.1:p.His25LeufsTer?
XM_017014677.1:c.-778_-777insT	XP_016870166.1:n.-778_-777insT
XM_024447529.1:c.73_74insT	XP_024303297.1:p.His25LeufsTer?
XR_002956778.1:n.2593_2594insT