Canonical Allele Identifier: CA2690816522

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96244196-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244201_96244202del , CM000671.2:g.96244201_96244202del	GRCh38
NC_000009.11:g.99006483_99006484del , CM000671.1:g.99006483_99006484del	GRCh37
NC_000009.10:g.98046304_98046305del	NCBI36
NG_008157.1:g.62955_62956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.672+131_672+132del	ENSP00000364411.2:n.672+131_672+132del
ENST00000375263.8:c.672+131_672+132del MANE Select	ENSP00000364412.3:n.672+131_672+132del
ENST00000463517.2:n.2214+131_2214+132del
ENST00000464104.6:n.1610+131_1610+132del
ENST00000467499.6:c.*371+131_*371+132del	ENSP00000498077.1:n.*371+131_*371+132del
ENST00000484816.2:n.23+131_23+132del
ENST00000494814.6:n.222+93_222+94del
ENST00000643789.1:c.2964+131_2964+132del
ENST00000648146.1:c.672+131_672+132del	ENSP00000497238.1:n.672+131_672+132del
ENST00000648332.1:c.349+131_349+132del	ENSP00000497562.1:n.349+131_349+132del
ENST00000648799.1:c.564+131_564+132del	ENSP00000498039.1:n.564+131_564+132del
ENST00000650005.1:c.601+131_601+132del	ENSP00000498121.1:n.601+131_601+132del
ENST00000375262.3:c.672+131_672+132del	ENSP00000364411.2:n.672+131_672+132del
ENST00000375263.7:c.672+131_672+132del	ENSP00000364412.3:n.672+131_672+132del
ENST00000464104.5:n.525+131_525+132del
ENST00000484816.1:n.22+131_22+132del
ENST00000494814.5:n.231+93_231+94del
NM_000197.1:c.672+131_672+132del	NP_000188.1:n.672+131_672+132del
XM_005251970.3:c.312+131_312+132del	XP_005252027.1:n.312+131_312+132del
XM_011518618.1:c.672+131_672+132del	XP_011516920.1:n.672+131_672+132del
XM_011518619.1:c.672+131_672+132del	XP_011516921.1:n.672+131_672+132del
XM_011518620.1:c.564+131_564+132del	XP_011516922.1:n.564+131_564+132del
XM_011518621.1:c.710+93_710+94del	XP_011516923.1:n.710+93_710+94del
NM_000197.2:c.672+131_672+132del MANE Select	NP_000188.1:n.672+131_672+132del
XM_011518618.2:c.672+131_672+132del	XP_011516920.1:n.672+131_672+132del
XM_011518619.2:c.672+131_672+132del	XP_011516921.1:n.672+131_672+132del
XM_017014671.1:c.672+131_672+132del	XP_016870160.1:n.672+131_672+132del
XM_017014672.1:c.672+131_672+132del	XP_016870161.1:n.672+131_672+132del
XM_017014673.2:c.636+131_636+132del	XP_016870162.1:n.636+131_636+132del
XM_017014674.1:c.564+131_564+132del	XP_016870163.1:n.564+131_564+132del
XM_017014675.1:c.510+131_510+132del	XP_016870164.1:n.510+131_510+132del
XM_017014677.1:c.312+131_312+132del	XP_016870166.1:n.312+131_312+132del
XM_024447529.1:c.510+131_510+132del	XP_024303297.1:n.510+131_510+132del
XR_002956778.1:n.3144+93_3144+94del