Canonical Allele Identifier: CA2690816565

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96244279-C-CGCCCACCTCACCTGGATGATGACAAGGACTCCACAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244303_96244340dup , CM000671.2:g.96244303_96244340dup	GRCh38
NC_000009.11:g.99006585_99006622dup , CM000671.1:g.99006585_99006622dup	GRCh37
NC_000009.10:g.98046406_98046443dup	NCBI36
NG_008157.1:g.62836_62873dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+12_672+49dup
ENST00000375263.8:c.672+12_672+49dup
ENST00000463517.2:n.2214+12_2214+49dup
ENST00000464104.6:n.1610+12_1610+49dup
ENST00000467499.6:c.*371+12_*371+49dup
ENST00000484816.2:n.23+12_23+49dup
ENST00000494814.6:n.196_222+11dup
ENST00000643789.1:c.2964+12_2964+49dup
ENST00000648146.1:c.672+12_672+49dup
ENST00000648332.1:c.349+12_349+49dup
ENST00000648799.1:c.564+12_564+49dup
ENST00000650005.1:c.601+12_601+49dup
ENST00000375262.3:c.672+12_672+49dup
ENST00000375263.7:c.672+12_672+49dup
ENST00000464104.5:n.525+12_525+49dup
ENST00000484816.1:n.22+12_22+49dup
ENST00000494814.5:n.205_231+11dup
NM_000197.1:c.672+12_672+49dup
XM_005251970.3:c.312+12_312+49dup
XM_011518618.1:c.672+12_672+49dup
XM_011518619.1:c.672+12_672+49dup
XM_011518620.1:c.564+12_564+49dup
XM_011518621.1:c.684_710+11dup
NM_000197.2:c.672+12_672+49dup
XM_011518618.2:c.672+12_672+49dup
XM_011518619.2:c.672+12_672+49dup
XM_017014671.1:c.672+12_672+49dup
XM_017014672.1:c.672+12_672+49dup
XM_017014673.2:c.636+12_636+49dup
XM_017014674.1:c.564+12_564+49dup
XM_017014675.1:c.510+12_510+49dup
XM_017014677.1:c.312+12_312+49dup
XM_024447529.1:c.510+12_510+49dup
XR_002956778.1:n.3118_3144+11dup