Canonical Allele Identifier: CA5140224

Gene: HSD17B3

Linked Data

• dbSNP Id: rs755928753
• ExAC: 9:98997741 GC / G
• gnomAD v2: 9-98997741-GC-G
• gnomAD v3: 9-96235459-GC-G
• gnomAD v4: 9-96235459-GC-G
• MyVariant Identifiers: chr9:g.98997742del (hg19) ; chr9:g.96235460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235460del , CM000671.2:g.96235460del	GRCh38
NC_000009.11:g.98997742del , CM000671.1:g.98997742del	GRCh37
NC_000009.10:g.98037563del	NCBI36
NG_008157.1:g.71693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.783del	ENSP00000364411.2:p.Ter261=
ENST00000375263.8:c.933del MANE Select	ENSP00000364412.3:p.Ter311TyrextTer19
ENST00000463517.2:n.2475del
ENST00000464104.6:n.1871del
ENST00000467499.6:c.*632del	ENSP00000498077.1:n.*632del
ENST00000494814.6:n.483del
ENST00000643789.1:c.3225del
ENST00000375262.3:c.783del	ENSP00000364411.2:p.Ter261TyrextTer19
ENST00000375263.7:c.933del	ENSP00000364412.3:p.Ter311TyrextTer19
ENST00000464104.5:n.786del
ENST00000467499.5:n.193del
ENST00000494814.5:n.492del
NM_000197.1:c.933del	NP_000188.1:p.Ter311TyrextTer19
XM_005251970.3:c.573del	XP_005252027.1:p.Ter191TyrextTer19
XM_011518618.1:c.933del	XP_011516920.1:p.Ter311TyrextTer19
XM_011518619.1:c.933del	XP_011516921.1:p.Ter311TyrextTer19
XM_011518620.1:c.825del	XP_011516922.1:p.Ter275TyrextTer19
NM_000197.2:c.933del MANE Select	NP_000188.1:p.Ter311TyrextTer19
XM_011518618.2:c.933del	XP_011516920.1:p.Ter311TyrextTer19
XM_011518619.2:c.933del	XP_011516921.1:p.Ter311TyrextTer19
XM_017014671.1:c.933del	XP_016870160.1:p.Ter311TyrextTer19
XM_017014672.1:c.933del	XP_016870161.1:p.Ter311TyrextTer19
XM_017014673.2:c.897del	XP_016870162.1:p.Ter299TyrextTer19
XM_017014674.1:c.825del	XP_016870163.1:p.Ter275TyrextTer19
XM_017014675.1:c.771del	XP_016870164.1:p.Ter257TyrextTer19
XM_017014677.1:c.573del	XP_016870166.1:p.Ter191TyrextTer19
XM_024447529.1:c.771del	XP_024303297.1:p.Ter257TyrextTer19
XR_002956778.1:n.3405del