Canonical Allele Identifier: CA5140315

Gene: HSD17B3

Linked Data

• dbSNP Id: rs747176985
• ExAC: 9:99006637 ATTCCTC / A
• gnomAD v2: 9-99006637-ATTCCTC-A
• gnomAD v4: 9-96244355-ATTCCTC-A
• MyVariant Identifiers: chr9:g.99006638_99006643del (hg19) ; chr9:g.96244356_96244361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244358_96244363del , CM000671.2:g.96244358_96244363del	GRCh38
NC_000009.11:g.99006640_99006645del , CM000671.1:g.99006640_99006645del	GRCh37
NC_000009.10:g.98046461_98046466del	NCBI36
NG_008157.1:g.62792_62797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.640_645del	ENSP00000364411.2:p.Glu214_Glu215del
ENST00000375263.8:c.640_645del MANE Select	ENSP00000364412.3:p.Glu214_Glu215del
ENST00000463517.2:n.2182_2187del
ENST00000464104.6:n.1578_1583del
ENST00000467499.6:c.*339_*344del	ENSP00000498077.1:n.*339_*344del
ENST00000494814.6:n.152_157del
ENST00000643789.1:c.2932_2937del
ENST00000648146.1:c.640_645del	ENSP00000497238.1:p.Glu214_Glu215del
ENST00000648332.1:c.317_322del	ENSP00000497562.1:p.Arg106_Gly107del
ENST00000648799.1:c.532_537del	ENSP00000498039.1:p.Glu178_Glu179del
ENST00000650005.1:c.569_574del	ENSP00000498121.1:p.Arg190_Gly191del
ENST00000375262.3:c.640_645del	ENSP00000364411.2:p.Glu214_Glu215del
ENST00000375263.7:c.640_645del	ENSP00000364412.3:p.Glu214_Glu215del
ENST00000464104.5:n.493_498del
ENST00000494814.5:n.161_166del
NM_000197.1:c.640_645del	NP_000188.1:p.Glu214_Glu215del
XM_005251970.3:c.280_285del	XP_005252027.1:p.Glu94_Glu95del
XM_011518618.1:c.640_645del	XP_011516920.1:p.Glu214_Glu215del
XM_011518619.1:c.640_645del	XP_011516921.1:p.Glu214_Glu215del
XM_011518620.1:c.532_537del	XP_011516922.1:p.Glu178_Glu179del
XM_011518621.1:c.640_645del	XP_011516923.1:p.Glu214_Glu215del
NM_000197.2:c.640_645del MANE Select	NP_000188.1:p.Glu214_Glu215del
XM_011518618.2:c.640_645del	XP_011516920.1:p.Glu214_Glu215del
XM_011518619.2:c.640_645del	XP_011516921.1:p.Glu214_Glu215del
XM_017014671.1:c.640_645del	XP_016870160.1:p.Glu214_Glu215del
XM_017014672.1:c.640_645del	XP_016870161.1:p.Glu214_Glu215del
XM_017014673.2:c.604_609del	XP_016870162.1:p.Glu202_Glu203del
XM_017014674.1:c.532_537del	XP_016870163.1:p.Glu178_Glu179del
XM_017014675.1:c.478_483del	XP_016870164.1:p.Glu160_Glu161del
XM_017014677.1:c.280_285del	XP_016870166.1:p.Glu94_Glu95del
XM_024447529.1:c.478_483del	XP_024303297.1:p.Glu160_Glu161del
XR_002956778.1:n.3074_3079del