Canonical Allele Identifier: CA2690817989

Gene: HSD17B3 HSD17B3-AS1

Linked Data

• gnomAD v4: 9-96251516-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96251520_96251522del , CM000671.2:g.96251520_96251522del	GRCh38
NC_000009.11:g.99013802_99013804del , CM000671.1:g.99013802_99013804del	GRCh37
NC_000009.10:g.98053623_98053625del	NCBI36
NG_008157.1:g.55634_55636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.386-34_386-32del (HSD17B3)	ENSP00000364411.2:n.386-34_386-32del
ENST00000375263.8:c.386-34_386-32del (HSD17B3) MANE Select	ENSP00000364412.3:n.386-34_386-32del
ENST00000463517.2:n.1195-34_1195-32del
ENST00000464104.6:n.856-34_856-32del
ENST00000467499.6:c.*85-34_*85-32del (HSD17B3)	ENSP00000498077.1:n.*85-34_*85-32del
ENST00000643789.1:c.2678-34_2678-32del
ENST00000648146.1:c.386-34_386-32del (HSD17B3)	ENSP00000497238.1:n.386-34_386-32del
ENST00000648332.1:c.202-6093_202-6091del (HSD17B3)	ENSP00000497562.1:n.202-6093_202-6091del
ENST00000648799.1:c.278-34_278-32del (HSD17B3)	ENSP00000498039.1:n.278-34_278-32del
ENST00000650005.1:c.386-34_386-32del (HSD17B3)	ENSP00000498121.1:n.386-34_386-32del
ENST00000650386.1:c.386-34_386-32del (HSD17B3)	ENSP00000497464.1:n.386-34_386-32del
ENST00000375262.3:c.386-34_386-32del (HSD17B3)	ENSP00000364411.2:n.386-34_386-32del
ENST00000375263.7:c.386-34_386-32del (HSD17B3)	ENSP00000364412.3:n.386-34_386-32del
ENST00000463517.1:n.143-34_143-32del (HSD17B3)
NM_000197.1:c.386-34_386-32del (HSD17B3)	NP_000188.1:n.386-34_386-32del
XM_006717095.2:c.386-34_386-32del (HSD17B3)	XP_006717158.1:n.386-34_386-32del
XM_011518618.1:c.386-34_386-32del (HSD17B3)	XP_011516920.1:n.386-34_386-32del
XM_011518619.1:c.386-34_386-32del (HSD17B3)	XP_011516921.1:n.386-34_386-32del
XM_011518620.1:c.278-34_278-32del (HSD17B3)	XP_011516922.1:n.278-34_278-32del
XM_011518621.1:c.386-34_386-32del (HSD17B3)	XP_011516923.1:n.386-34_386-32del
XR_930147.1:n.1288+4185_1288+4187del (HSD17B3-AS1)
XR_930148.1:n.1288+4185_1288+4187del (HSD17B3-AS1)
NM_000197.2:c.386-34_386-32del (HSD17B3) MANE Select	NP_000188.1:n.386-34_386-32del
XM_011518618.2:c.386-34_386-32del (HSD17B3)	XP_011516920.1:n.386-34_386-32del
XM_011518619.2:c.386-34_386-32del (HSD17B3)	XP_011516921.1:n.386-34_386-32del
XM_017014671.1:c.386-34_386-32del (HSD17B3)	XP_016870160.1:n.386-34_386-32del
XM_017014672.1:c.386-34_386-32del (HSD17B3)	XP_016870161.1:n.386-34_386-32del
XM_017014673.2:c.386-34_386-32del (HSD17B3)	XP_016870162.1:n.386-34_386-32del
XM_017014674.1:c.278-34_278-32del (HSD17B3)	XP_016870163.1:n.278-34_278-32del
XM_017014675.1:c.224-34_224-32del (HSD17B3)	XP_016870164.1:n.224-34_224-32del
XM_017014677.1:c.-551-34_-551-32del (HSD17B3)	XP_016870166.1:n.-551-34_-551-32del
XM_024447529.1:c.224-34_224-32del (HSD17B3)	XP_024303297.1:n.224-34_224-32del
XR_002956778.1:n.2820-34_2820-32del (HSD17B3)