Canonical Allele Identifier: CA2690815899

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235627-CATCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235628_96235631del , CM000671.2:g.96235628_96235631del	GRCh38
NC_000009.11:g.98997910_98997913del , CM000671.1:g.98997910_98997913del	GRCh37
NC_000009.10:g.98037731_98037734del	NCBI36
NG_008157.1:g.71522_71525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.673-61_673-58del	ENSP00000364411.2:n.673-61_673-58del
ENST00000375263.8:c.823-61_823-58del MANE Select	ENSP00000364412.3:n.823-61_823-58del
ENST00000463517.2:n.2365-61_2365-58del
ENST00000464104.6:n.1761-61_1761-58del
ENST00000467499.6:c.*522-61_*522-58del	ENSP00000498077.1:n.*522-61_*522-58del
ENST00000494814.6:n.373-61_373-58del
ENST00000643789.1:c.3115-61_3115-58del
ENST00000648146.1:c.961-61_961-58del	ENSP00000497238.1:n.961-61_961-58del
ENST00000648332.1:c.500-61_500-58del	ENSP00000497562.1:n.500-61_500-58del
ENST00000648799.1:c.715-61_715-58del	ENSP00000498039.1:n.715-61_715-58del
ENST00000650005.1:c.752-61_752-58del	ENSP00000498121.1:n.752-61_752-58del
ENST00000375262.3:c.673-61_673-58del	ENSP00000364411.2:n.673-61_673-58del
ENST00000375263.7:c.823-61_823-58del	ENSP00000364412.3:n.823-61_823-58del
ENST00000464104.5:n.676-61_676-58del
ENST00000467499.5:n.83-61_83-58del
ENST00000494814.5:n.382-61_382-58del
NM_000197.1:c.823-61_823-58del	NP_000188.1:n.823-61_823-58del
XM_005251970.3:c.463-61_463-58del	XP_005252027.1:n.463-61_463-58del
XM_011518618.1:c.823-61_823-58del	XP_011516920.1:n.823-61_823-58del
XM_011518619.1:c.823-61_823-58del	XP_011516921.1:n.823-61_823-58del
XM_011518620.1:c.715-61_715-58del	XP_011516922.1:n.715-61_715-58del
NM_000197.2:c.823-61_823-58del MANE Select	NP_000188.1:n.823-61_823-58del
XM_011518618.2:c.823-61_823-58del	XP_011516920.1:n.823-61_823-58del
XM_011518619.2:c.823-61_823-58del	XP_011516921.1:n.823-61_823-58del
XM_017014671.1:c.823-61_823-58del	XP_016870160.1:n.823-61_823-58del
XM_017014672.1:c.823-61_823-58del	XP_016870161.1:n.823-61_823-58del
XM_017014673.2:c.787-61_787-58del	XP_016870162.1:n.787-61_787-58del
XM_017014674.1:c.715-61_715-58del	XP_016870163.1:n.715-61_715-58del
XM_017014675.1:c.661-61_661-58del	XP_016870164.1:n.661-61_661-58del
XM_017014677.1:c.463-61_463-58del	XP_016870166.1:n.463-61_463-58del
XM_024447529.1:c.661-61_661-58del	XP_024303297.1:n.661-61_661-58del
XR_002956778.1:n.3295-61_3295-58del