Canonical Allele Identifier: CA1865974598
Gene: HSD17B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235459_96235460delinsGC , CM000671.2:g.96235459_96235460delinsGC GRCh38
NC_000009.11:g.98997741_98997742delinsGC , CM000671.1:g.98997741_98997742delinsGC GRCh37
NC_000009.10:g.98037562_98037563delinsGC NCBI36
NG_008157.1:g.71693_71694delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375263.8:c.933_*1delinsGC MANE Select ENSP00000364412.3:n.[c.933_*1delinsGC;Ter311=]
ENST00000463517.2:n.2475_2476delinsGC
ENST00000464104.6:n.1871_1872delinsGC
ENST00000467499.6:c.*632_*633delinsGC ENSP00000498077.1:n.*632_*633delinsGC
ENST00000494814.6:n.483_484delinsGC
ENST00000643789.1:c.3225_3226delinsGC
ENST00000375262.3:c.783_*1delinsGC ENSP00000364411.2:n.[c.783_*1delinsGC;Ter261=]
ENST00000375263.7:c.933_*1delinsGC ENSP00000364412.3:n.[c.933_*1delinsGC;Ter311=]
ENST00000464104.5:n.786_787delinsGC
ENST00000467499.5:n.193_194delinsGC
ENST00000494814.5:n.492_493delinsGC
NM_000197.1:c.933_*1delinsGC NP_000188.1:n.[c.933_*1delinsGC;Ter311=]
XM_005251970.3:c.573_*1delinsGC XP_005252027.1:n.[c.573_*1delinsGC;Ter191=]
XM_011518618.1:c.933_*1delinsGC XP_011516920.1:n.[c.933_*1delinsGC;Ter311=]
XM_011518619.1:c.933_*1delinsGC XP_011516921.1:n.[c.933_*1delinsGC;Ter311=]
XM_011518620.1:c.825_*1delinsGC XP_011516922.1:n.[c.825_*1delinsGC;Ter275=]
NM_000197.2:c.933_*1delinsGC MANE Select NP_000188.1:n.[c.933_*1delinsGC;Ter311=]
XM_011518618.2:c.933_*1delinsGC XP_011516920.1:n.[c.933_*1delinsGC;Ter311=]
XM_011518619.2:c.933_*1delinsGC XP_011516921.1:n.[c.933_*1delinsGC;Ter311=]
XM_017014671.1:c.933_*1delinsGC XP_016870160.1:n.[c.933_*1delinsGC;Ter311=]
XM_017014672.1:c.933_*1delinsGC XP_016870161.1:n.[c.933_*1delinsGC;Ter311=]
XM_017014673.2:c.897_*1delinsGC XP_016870162.1:n.[c.897_*1delinsGC;Ter299=]
XM_017014674.1:c.825_*1delinsGC XP_016870163.1:n.[c.825_*1delinsGC;Ter275=]
XM_017014675.1:c.771_*1delinsGC XP_016870164.1:n.[c.771_*1delinsGC;Ter257=]
XM_017014677.1:c.573_*1delinsGC XP_016870166.1:n.[c.573_*1delinsGC;Ter191=]
XM_024447529.1:c.771_*1delinsGC XP_024303297.1:n.[c.771_*1delinsGC;Ter257=]
XR_002956778.1:n.3405_3406delinsGC