Canonical Allele Identifier: CA1865974580

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1836195041
• gnomAD v4: 9-96235434-GTTGTGCTGGACTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235436_96235449del , CM000671.2:g.96235436_96235449del	GRCh38
NC_000009.11:g.98997718_98997731del , CM000671.1:g.98997718_98997731del	GRCh37
NC_000009.10:g.98037539_98037552del	NCBI36
NG_008157.1:g.71705_71718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*12_*25del MANE Select	ENSP00000364412.3:n.*12_*25del
ENST00000463517.2:n.2487_2500del
ENST00000464104.6:n.1883_1896del
ENST00000467499.6:c.*644_*657del	ENSP00000498077.1:n.*644_*657del
ENST00000494814.6:n.495_508del
ENST00000643789.1:c.3237_3250del
ENST00000375262.3:c.*12_*25del	ENSP00000364411.2:n.*12_*25del
ENST00000375263.7:c.*12_*25del	ENSP00000364412.3:n.*12_*25del
ENST00000464104.5:n.798_811del
ENST00000467499.5:n.205_218del
ENST00000494814.5:n.504_517del
NM_000197.1:c.*12_*25del	NP_000188.1:n.*12_*25del
XM_005251970.3:c.*12_*25del	XP_005252027.1:n.*12_*25del
XM_011518618.1:c.*12_*25del	XP_011516920.1:n.*12_*25del
XM_011518619.1:c.*12_*25del	XP_011516921.1:n.*12_*25del
XM_011518620.1:c.*12_*25del	XP_011516922.1:n.*12_*25del
NM_000197.2:c.*12_*25del MANE Select	NP_000188.1:n.*12_*25del
XM_011518618.2:c.*12_*25del	XP_011516920.1:n.*12_*25del
XM_011518619.2:c.*12_*25del	XP_011516921.1:n.*12_*25del
XM_017014671.1:c.*12_*25del	XP_016870160.1:n.*12_*25del
XM_017014672.1:c.*12_*25del	XP_016870161.1:n.*12_*25del
XM_017014673.2:c.*12_*25del	XP_016870162.1:n.*12_*25del
XM_017014674.1:c.*12_*25del	XP_016870163.1:n.*12_*25del
XM_017014675.1:c.*12_*25del	XP_016870164.1:n.*12_*25del
XM_017014677.1:c.*12_*25del	XP_016870166.1:n.*12_*25del
XM_024447529.1:c.*12_*25del	XP_024303297.1:n.*12_*25del
XR_002956778.1:n.3417_3430del