Canonical Allele Identifier: CA2690816576

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96244303-A-AAGGACTCCACAGCTGCCCACCTCACCTGGATGATGACT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244304_96244341dup , CM000671.2:g.96244304_96244341dup	GRCh38
NC_000009.11:g.99006586_99006623dup , CM000671.1:g.99006586_99006623dup	GRCh37
NC_000009.10:g.98046407_98046444dup	NCBI36
NG_008157.1:g.62812_62849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.660_672+25dup
ENST00000375263.8:c.660_672+25dup
ENST00000463517.2:n.2202_2214+25dup
ENST00000464104.6:n.1598_1610+25dup
ENST00000467499.6:c.*359_*371+25dup
ENST00000484816.2:n.11_23+25dup
ENST00000494814.6:n.172_209dup
ENST00000643789.1:c.2952_2964+25dup
ENST00000648146.1:c.660_672+25dup
ENST00000648332.1:c.337_349+25dup
ENST00000648799.1:c.552_564+25dup
ENST00000650005.1:c.589_601+25dup
ENST00000375262.3:c.660_672+25dup
ENST00000375263.7:c.660_672+25dup
ENST00000464104.5:n.513_525+25dup
ENST00000484816.1:n.10_22+25dup
ENST00000494814.5:n.181_218dup
NM_000197.1:c.660_672+25dup
XM_005251970.3:c.300_312+25dup
XM_011518618.1:c.660_672+25dup
XM_011518619.1:c.660_672+25dup
XM_011518620.1:c.552_564+25dup
XM_011518621.1:c.660_697dup	XP_011516923.1:p.Leu233Ter
NM_000197.2:c.660_672+25dup
XM_011518618.2:c.660_672+25dup
XM_011518619.2:c.660_672+25dup
XM_017014671.1:c.660_672+25dup
XM_017014672.1:c.660_672+25dup
XM_017014673.2:c.624_636+25dup
XM_017014674.1:c.552_564+25dup
XM_017014675.1:c.498_510+25dup
XM_017014677.1:c.300_312+25dup
XM_024447529.1:c.498_510+25dup
XR_002956778.1:n.3094_3131dup