Canonical Allele Identifier: CA2720350672

Gene: HSD17B3

Linked Data

• dbSNP Id: rs2130694723

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235337_96235338insCTCCA , CM000671.2:g.96235337_96235338insCTCCA	GRCh38
NC_000009.11:g.98997619_98997620insCTCCA , CM000671.1:g.98997619_98997620insCTCCA	GRCh37
NC_000009.10:g.98037440_98037441insCTCCA	NCBI36
NG_008157.1:g.71815_71816insTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*122_*123insTGGAG MANE Select	ENSP00000364412.3:n.*122_*123insTGGAG
ENST00000463517.2:n.2597_2598insTGGAG
ENST00000464104.6:n.1993_1994insTGGAG
ENST00000467499.6:c.*754_*755insTGGAG	ENSP00000498077.1:n.*754_*755insTGGAG
ENST00000494814.6:n.605_606insTGGAG
ENST00000375262.3:c.*122_*123insTGGAG	ENSP00000364411.2:n.*122_*123insTGGAG
ENST00000375263.7:c.*122_*123insTGGAG	ENSP00000364412.3:n.*122_*123insTGGAG
ENST00000464104.5:n.908_909insTGGAG
ENST00000467499.5:n.315_316insTGGAG
ENST00000494814.5:n.614_615insTGGAG
NM_000197.1:c.*122_*123insTGGAG	NP_000188.1:n.*122_*123insTGGAG
XM_005251970.3:c.*122_*123insTGGAG	XP_005252027.1:n.*122_*123insTGGAG
XM_011518618.1:c.*122_*123insTGGAG	XP_011516920.1:n.*122_*123insTGGAG
XM_011518619.1:c.*122_*123insTGGAG	XP_011516921.1:n.*122_*123insTGGAG
XM_011518620.1:c.*122_*123insTGGAG	XP_011516922.1:n.*122_*123insTGGAG
NM_000197.2:c.*122_*123insTGGAG MANE Select	NP_000188.1:n.*122_*123insTGGAG
XM_011518618.2:c.*122_*123insTGGAG	XP_011516920.1:n.*122_*123insTGGAG
XM_011518619.2:c.*122_*123insTGGAG	XP_011516921.1:n.*122_*123insTGGAG
XM_017014671.1:c.*122_*123insTGGAG	XP_016870160.1:n.*122_*123insTGGAG
XM_017014672.1:c.*122_*123insTGGAG	XP_016870161.1:n.*122_*123insTGGAG
XM_017014673.2:c.*122_*123insTGGAG	XP_016870162.1:n.*122_*123insTGGAG
XM_017014674.1:c.*122_*123insTGGAG	XP_016870163.1:n.*122_*123insTGGAG
XM_017014675.1:c.*122_*123insTGGAG	XP_016870164.1:n.*122_*123insTGGAG
XM_017014677.1:c.*122_*123insTGGAG	XP_016870166.1:n.*122_*123insTGGAG
XM_024447529.1:c.*122_*123insTGGAG	XP_024303297.1:n.*122_*123insTGGAG
XR_002956778.1:n.3527_3528insTGGAG