Canonical Allele Identifier: CA2690816190

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96239848-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96239849_96239850del , CM000671.2:g.96239849_96239850del	GRCh38
NC_000009.11:g.99002131_99002132del , CM000671.1:g.99002131_99002132del	GRCh37
NC_000009.10:g.98041952_98041953del	NCBI36
NG_008157.1:g.67303_67304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.673-4280_673-4279del	ENSP00000364411.2:n.673-4280_673-4279del
ENST00000375263.8:c.822+908_822+909del MANE Select	ENSP00000364412.3:n.822+908_822+909del
ENST00000463517.2:n.2364+908_2364+909del
ENST00000464104.6:n.1760+908_1760+909del
ENST00000467499.6:c.*521+908_*521+909del	ENSP00000498077.1:n.*521+908_*521+909del
ENST00000484816.2:n.174-179_174-178del
ENST00000494814.6:n.372+908_372+909del
ENST00000643789.1:c.3114+908_3114+909del
ENST00000648146.1:c.933_934del	ENSP00000497238.1:n.933_934del
ENST00000648332.1:c.499+908_499+909del	ENSP00000497562.1:n.499+908_499+909del
ENST00000648799.1:c.714+908_714+909del	ENSP00000498039.1:n.714+908_714+909del
ENST00000650005.1:c.751+908_751+909del	ENSP00000498121.1:n.751+908_751+909del
ENST00000375262.3:c.673-4280_673-4279del	ENSP00000364411.2:n.673-4280_673-4279del
ENST00000375263.7:c.822+908_822+909del	ENSP00000364412.3:n.822+908_822+909del
ENST00000464104.5:n.675+908_675+909del
ENST00000467499.5:n.55_56del
ENST00000484816.1:n.173-179_173-178del
ENST00000494814.5:n.381+908_381+909del
NM_000197.1:c.822+908_822+909del	NP_000188.1:n.822+908_822+909del
XM_005251970.3:c.462+908_462+909del	XP_005252027.1:n.462+908_462+909del
XM_011518618.1:c.822+908_822+909del	XP_011516920.1:n.822+908_822+909del
XM_011518619.1:c.822+908_822+909del	XP_011516921.1:n.822+908_822+909del
XM_011518620.1:c.714+908_714+909del	XP_011516922.1:n.714+908_714+909del
NM_000197.2:c.822+908_822+909del MANE Select	NP_000188.1:n.822+908_822+909del
XM_011518618.2:c.822+908_822+909del	XP_011516920.1:n.822+908_822+909del
XM_011518619.2:c.822+908_822+909del	XP_011516921.1:n.822+908_822+909del
XM_017014671.1:c.822+908_822+909del	XP_016870160.1:n.822+908_822+909del
XM_017014672.1:c.822+908_822+909del	XP_016870161.1:n.822+908_822+909del
XM_017014673.2:c.786+908_786+909del	XP_016870162.1:n.786+908_786+909del
XM_017014674.1:c.714+908_714+909del	XP_016870163.1:n.714+908_714+909del
XM_017014675.1:c.660+908_660+909del	XP_016870164.1:n.660+908_660+909del
XM_017014677.1:c.462+908_462+909del	XP_016870166.1:n.462+908_462+909del
XM_024447529.1:c.660+908_660+909del	XP_024303297.1:n.660+908_660+909del
XR_002956778.1:n.3294+908_3294+909del