Canonical Allele Identifier: CA2720349036

Gene: HSD17B3

Linked Data

• dbSNP Id: rs2130711737

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244202_96244203del , CM000671.2:g.96244202_96244203del	GRCh38
NC_000009.11:g.99006484_99006485del , CM000671.1:g.99006484_99006485del	GRCh37
NC_000009.10:g.98046305_98046306del	NCBI36
NG_008157.1:g.62950_62951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.672+126_672+127del	ENSP00000364411.2:n.672+126_672+127del
ENST00000375263.8:c.672+126_672+127del MANE Select	ENSP00000364412.3:n.672+126_672+127del
ENST00000463517.2:n.2214+126_2214+127del
ENST00000464104.6:n.1610+126_1610+127del
ENST00000467499.6:c.*371+126_*371+127del	ENSP00000498077.1:n.*371+126_*371+127del
ENST00000484816.2:n.23+126_23+127del
ENST00000494814.6:n.222+88_222+89del
ENST00000643789.1:c.2964+126_2964+127del
ENST00000648146.1:c.672+126_672+127del	ENSP00000497238.1:n.672+126_672+127del
ENST00000648332.1:c.349+126_349+127del	ENSP00000497562.1:n.349+126_349+127del
ENST00000648799.1:c.564+126_564+127del	ENSP00000498039.1:n.564+126_564+127del
ENST00000650005.1:c.601+126_601+127del	ENSP00000498121.1:n.601+126_601+127del
ENST00000375262.3:c.672+126_672+127del	ENSP00000364411.2:n.672+126_672+127del
ENST00000375263.7:c.672+126_672+127del	ENSP00000364412.3:n.672+126_672+127del
ENST00000464104.5:n.525+126_525+127del
ENST00000484816.1:n.22+126_22+127del
ENST00000494814.5:n.231+88_231+89del
NM_000197.1:c.672+126_672+127del	NP_000188.1:n.672+126_672+127del
XM_005251970.3:c.312+126_312+127del	XP_005252027.1:n.312+126_312+127del
XM_011518618.1:c.672+126_672+127del	XP_011516920.1:n.672+126_672+127del
XM_011518619.1:c.672+126_672+127del	XP_011516921.1:n.672+126_672+127del
XM_011518620.1:c.564+126_564+127del	XP_011516922.1:n.564+126_564+127del
XM_011518621.1:c.710+88_710+89del	XP_011516923.1:n.710+88_710+89del
NM_000197.2:c.672+126_672+127del MANE Select	NP_000188.1:n.672+126_672+127del
XM_011518618.2:c.672+126_672+127del	XP_011516920.1:n.672+126_672+127del
XM_011518619.2:c.672+126_672+127del	XP_011516921.1:n.672+126_672+127del
XM_017014671.1:c.672+126_672+127del	XP_016870160.1:n.672+126_672+127del
XM_017014672.1:c.672+126_672+127del	XP_016870161.1:n.672+126_672+127del
XM_017014673.2:c.636+126_636+127del	XP_016870162.1:n.636+126_636+127del
XM_017014674.1:c.564+126_564+127del	XP_016870163.1:n.564+126_564+127del
XM_017014675.1:c.510+126_510+127del	XP_016870164.1:n.510+126_510+127del
XM_017014677.1:c.312+126_312+127del	XP_016870166.1:n.312+126_312+127del
XM_024447529.1:c.510+126_510+127del	XP_024303297.1:n.510+126_510+127del
XR_002956778.1:n.3144+88_3144+89del