Canonical Allele Identifier: CA2690816595

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96244422-GCCCCAGAGTGAGCTCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244424_96244441del , CM000671.2:g.96244424_96244441del	GRCh38
NC_000009.11:g.99006706_99006723del , CM000671.1:g.99006706_99006723del	GRCh37
NC_000009.10:g.98046527_98046544del	NCBI36
NG_008157.1:g.62713_62730del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.607-46_607-29del	ENSP00000364411.2:n.607-46_607-29del
ENST00000375263.8:c.607-46_607-29del MANE Select	ENSP00000364412.3:n.607-46_607-29del
ENST00000463517.2:n.2127-24_2127-7del
ENST00000464104.6:n.1545-46_1545-29del
ENST00000467499.6:c.*306-46_*306-29del	ENSP00000498077.1:n.*306-46_*306-29del
ENST00000494814.6:n.119-46_119-29del
ENST00000643789.1:c.2899-46_2899-29del
ENST00000648146.1:c.607-46_607-29del	ENSP00000497238.1:n.607-46_607-29del
ENST00000648332.1:c.284-46_284-29del	ENSP00000497562.1:n.284-46_284-29del
ENST00000648799.1:c.499-46_499-29del	ENSP00000498039.1:n.499-46_499-29del
ENST00000650005.1:c.536-46_536-29del	ENSP00000498121.1:n.536-46_536-29del
ENST00000375262.3:c.607-46_607-29del	ENSP00000364411.2:n.607-46_607-29del
ENST00000375263.7:c.607-46_607-29del	ENSP00000364412.3:n.607-46_607-29del
ENST00000464104.5:n.460-46_460-29del
ENST00000494814.5:n.128-46_128-29del
NM_000197.1:c.607-46_607-29del	NP_000188.1:n.607-46_607-29del
XM_005251970.3:c.247-46_247-29del	XP_005252027.1:n.247-46_247-29del
XM_011518618.1:c.607-46_607-29del	XP_011516920.1:n.607-46_607-29del
XM_011518619.1:c.607-46_607-29del	XP_011516921.1:n.607-46_607-29del
XM_011518620.1:c.499-46_499-29del	XP_011516922.1:n.499-46_499-29del
XM_011518621.1:c.607-46_607-29del	XP_011516923.1:n.607-46_607-29del
NM_000197.2:c.607-46_607-29del MANE Select	NP_000188.1:n.607-46_607-29del
XM_011518618.2:c.607-46_607-29del	XP_011516920.1:n.607-46_607-29del
XM_011518619.2:c.607-46_607-29del	XP_011516921.1:n.607-46_607-29del
XM_017014671.1:c.607-46_607-29del	XP_016870160.1:n.607-46_607-29del
XM_017014672.1:c.607-46_607-29del	XP_016870161.1:n.607-46_607-29del
XM_017014673.2:c.571-46_571-29del	XP_016870162.1:n.571-46_571-29del
XM_017014674.1:c.499-46_499-29del	XP_016870163.1:n.499-46_499-29del
XM_017014675.1:c.445-46_445-29del	XP_016870164.1:n.445-46_445-29del
XM_017014677.1:c.247-46_247-29del	XP_016870166.1:n.247-46_247-29del
XM_024447529.1:c.445-46_445-29del	XP_024303297.1:n.445-46_445-29del
XR_002956778.1:n.3041-46_3041-29del