Canonical Allele Identifier: CA2690816583

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96244331-GGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244337_96244339del , CM000671.2:g.96244337_96244339del	GRCh38
NC_000009.11:g.99006619_99006621del , CM000671.1:g.99006619_99006621del	GRCh37
NC_000009.10:g.98046440_98046442del	NCBI36
NG_008157.1:g.62819_62821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.667_669del	ENSP00000364411.2:p.Ile223del
ENST00000375263.8:c.667_669del MANE Select	ENSP00000364412.3:p.Ile223del
ENST00000463517.2:n.2209_2211del
ENST00000464104.6:n.1605_1607del
ENST00000467499.6:c.*366_*368del	ENSP00000498077.1:n.*366_*368del
ENST00000484816.2:n.18_20del
ENST00000494814.6:n.179_181del
ENST00000643789.1:c.2959_2961del
ENST00000648146.1:c.667_669del	ENSP00000497238.1:p.Ile223del
ENST00000648332.1:c.344_346del	ENSP00000497562.1:n.344_346del
ENST00000648799.1:c.559_561del	ENSP00000498039.1:p.Ile187del
ENST00000650005.1:c.596_598del	ENSP00000498121.1:n.596_598del
ENST00000375262.3:c.667_669del	ENSP00000364411.2:p.Ile223del
ENST00000375263.7:c.667_669del	ENSP00000364412.3:p.Ile223del
ENST00000464104.5:n.520_522del
ENST00000484816.1:n.17_19del
ENST00000494814.5:n.188_190del
NM_000197.1:c.667_669del	NP_000188.1:p.Ile223del
XM_005251970.3:c.307_309del	XP_005252027.1:p.Ile103del
XM_011518618.1:c.667_669del	XP_011516920.1:p.Ile223del
XM_011518619.1:c.667_669del	XP_011516921.1:p.Ile223del
XM_011518620.1:c.559_561del	XP_011516922.1:p.Ile187del
XM_011518621.1:c.667_669del	XP_011516923.1:p.Ile223del
NM_000197.2:c.667_669del MANE Select	NP_000188.1:p.Ile223del
XM_011518618.2:c.667_669del	XP_011516920.1:p.Ile223del
XM_011518619.2:c.667_669del	XP_011516921.1:p.Ile223del
XM_017014671.1:c.667_669del	XP_016870160.1:p.Ile223del
XM_017014672.1:c.667_669del	XP_016870161.1:p.Ile223del
XM_017014673.2:c.631_633del	XP_016870162.1:p.Ile211del
XM_017014674.1:c.559_561del	XP_016870163.1:p.Ile187del
XM_017014675.1:c.505_507del	XP_016870164.1:p.Ile169del
XM_017014677.1:c.307_309del	XP_016870166.1:p.Ile103del
XM_024447529.1:c.505_507del	XP_024303297.1:p.Ile169del
XR_002956778.1:n.3101_3103del