Canonical Allele Identifier: CA2579390514

Gene: HSD17B3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235389_96235390del , CM000671.2:g.96235389_96235390del	GRCh38
NC_000009.11:g.98997671_98997672del , CM000671.1:g.98997671_98997672del	GRCh37
NC_000009.10:g.98037492_98037493del	NCBI36
NG_008157.1:g.71763_71764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*70_*71del MANE Select	ENSP00000364412.3:n.*70_*71del
ENST00000463517.2:n.2545_2546del
ENST00000464104.6:n.1941_1942del
ENST00000467499.6:c.*702_*703del	ENSP00000498077.1:n.*702_*703del
ENST00000494814.6:n.553_554del
ENST00000643789.1:c.3295_3296del
ENST00000375262.3:c.*70_*71del	ENSP00000364411.2:n.*70_*71del
ENST00000375263.7:c.*70_*71del	ENSP00000364412.3:n.*70_*71del
ENST00000464104.5:n.856_857del
ENST00000467499.5:n.263_264del
ENST00000494814.5:n.562_563del
NM_000197.1:c.*70_*71del	NP_000188.1:n.*70_*71del
XM_005251970.3:c.*70_*71del	XP_005252027.1:n.*70_*71del
XM_011518618.1:c.*70_*71del	XP_011516920.1:n.*70_*71del
XM_011518619.1:c.*70_*71del	XP_011516921.1:n.*70_*71del
XM_011518620.1:c.*70_*71del	XP_011516922.1:n.*70_*71del
NM_000197.2:c.*70_*71del MANE Select	NP_000188.1:n.*70_*71del
XM_011518618.2:c.*70_*71del	XP_011516920.1:n.*70_*71del
XM_011518619.2:c.*70_*71del	XP_011516921.1:n.*70_*71del
XM_017014671.1:c.*70_*71del	XP_016870160.1:n.*70_*71del
XM_017014672.1:c.*70_*71del	XP_016870161.1:n.*70_*71del
XM_017014673.2:c.*70_*71del	XP_016870162.1:n.*70_*71del
XM_017014674.1:c.*70_*71del	XP_016870163.1:n.*70_*71del
XM_017014675.1:c.*70_*71del	XP_016870164.1:n.*70_*71del
XM_017014677.1:c.*70_*71del	XP_016870166.1:n.*70_*71del
XM_024447529.1:c.*70_*71del	XP_024303297.1:n.*70_*71del
XR_002956778.1:n.3475_3476del