Canonical Allele Identifier: CA589273383

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1419333031
• gnomAD v2: 9-98997596-C-CA
• gnomAD v3: 9-96235314-C-CA
• gnomAD v4: 9-96235314-C-CA
• MyVariant Identifiers: chr9:g.98997596_98997597insA (hg19) ; chr9:g.96235314_96235315insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235320dup , CM000671.2:g.96235320dup	GRCh38
NC_000009.11:g.98997602dup , CM000671.1:g.98997602dup	GRCh37
NC_000009.10:g.98037423dup	NCBI36
NG_008157.1:g.71838dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*145dup MANE Select	ENSP00000364412.3:n.*145dup
ENST00000467499.6:c.*777dup	ENSP00000498077.1:n.*777dup
ENST00000494814.6:n.628dup
ENST00000375262.3:c.*145dup	ENSP00000364411.2:n.*145dup
ENST00000375263.7:c.*145dup	ENSP00000364412.3:n.*145dup
ENST00000464104.5:n.931dup
ENST00000467499.5:n.338dup
ENST00000494814.5:n.637dup
NM_000197.1:c.*145dup	NP_000188.1:n.*145dup
XM_005251970.3:c.*145dup	XP_005252027.1:n.*145dup
XM_011518618.1:c.*145dup	XP_011516920.1:n.*145dup
XM_011518619.1:c.*145dup	XP_011516921.1:n.*145dup
XM_011518620.1:c.*145dup	XP_011516922.1:n.*145dup
NM_000197.2:c.*145dup MANE Select	NP_000188.1:n.*145dup
XM_011518618.2:c.*145dup	XP_011516920.1:n.*145dup
XM_011518619.2:c.*145dup	XP_011516921.1:n.*145dup
XM_017014671.1:c.*145dup	XP_016870160.1:n.*145dup
XM_017014672.1:c.*145dup	XP_016870161.1:n.*145dup
XM_017014673.2:c.*145dup	XP_016870162.1:n.*145dup
XM_017014674.1:c.*145dup	XP_016870163.1:n.*145dup
XM_017014675.1:c.*145dup	XP_016870164.1:n.*145dup
XM_017014677.1:c.*145dup	XP_016870166.1:n.*145dup
XM_024447529.1:c.*145dup	XP_024303297.1:n.*145dup
XR_002956778.1:n.3550dup