Canonical Allele Identifier: CA645543127

Gene: HSD17B3

Linked Data

• COSMIC: COSM5977353

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244355_96244356dup , CM000671.2:g.96244355_96244356dup	GRCh38
NC_000009.11:g.99006637_99006638dup , CM000671.1:g.99006637_99006638dup	GRCh37
NC_000009.10:g.98046458_98046459dup	NCBI36
NG_008157.1:g.62800_62801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.648_649dup	ENSP00000364411.2:p.Lys217IlefsTer13
ENST00000375263.8:c.648_649dup MANE Select	ENSP00000364412.3:p.Lys217IlefsTer11
ENST00000463517.2:n.2190_2191dup
ENST00000464104.6:n.1586_1587dup
ENST00000467499.6:c.*347_*348dup	ENSP00000498077.1:n.*347_*348dup
ENST00000494814.6:n.160_161dup
ENST00000643789.1:c.2940_2941dup
ENST00000648146.1:c.648_649dup	ENSP00000497238.1:p.Lys217IlefsTer11
ENST00000648332.1:c.325_326dup	ENSP00000497562.1:p.Ter109TyrextTer?
ENST00000648799.1:c.540_541dup	ENSP00000498039.1:p.Lys181IlefsTer11
ENST00000650005.1:c.577_578dup	ENSP00000498121.1:p.Ter193TyrextTer?
ENST00000375262.3:c.648_649dup	ENSP00000364411.2:p.Lys217IlefsTer13
ENST00000375263.7:c.648_649dup	ENSP00000364412.3:p.Lys217IlefsTer11
ENST00000464104.5:n.501_502dup
ENST00000494814.5:n.169_170dup
NM_000197.1:c.648_649dup	NP_000188.1:p.Lys217IlefsTer11
XM_005251970.3:c.288_289dup	XP_005252027.1:p.Lys97IlefsTer11
XM_011518618.1:c.648_649dup	XP_011516920.1:p.Lys217IlefsTer11
XM_011518619.1:c.648_649dup	XP_011516921.1:p.Lys217IlefsTer11
XM_011518620.1:c.540_541dup	XP_011516922.1:p.Lys181IlefsTer11
XM_011518621.1:c.648_649dup	XP_011516923.1:p.Lys217IlefsTer10
NM_000197.2:c.648_649dup MANE Select	NP_000188.1:p.Lys217IlefsTer11
XM_011518618.2:c.648_649dup	XP_011516920.1:p.Lys217IlefsTer11
XM_011518619.2:c.648_649dup	XP_011516921.1:p.Lys217IlefsTer11
XM_017014671.1:c.648_649dup	XP_016870160.1:p.Lys217IlefsTer11
XM_017014672.1:c.648_649dup	XP_016870161.1:p.Lys217IlefsTer11
XM_017014673.2:c.612_613dup	XP_016870162.1:p.Lys205IlefsTer11
XM_017014674.1:c.540_541dup	XP_016870163.1:p.Lys181IlefsTer11
XM_017014675.1:c.486_487dup	XP_016870164.1:p.Lys163IlefsTer11
XM_017014677.1:c.288_289dup	XP_016870166.1:p.Lys97IlefsTer11
XM_024447529.1:c.486_487dup	XP_024303297.1:p.Lys163IlefsTer11
XR_002956778.1:n.3082_3083dup