Canonical Allele Identifier: CA1127052672

Gene: HSD17B3

Linked Data

• gnomAD v3: 9-96244661-C-CAAAAAAAAAAAAAAA
• gnomAD v4: 9-96244661-C-CAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244662_96244663insAAAAAAAAAAAAAAA , CM000671.2:g.96244662_96244663insAAAAAAAAAAAAAAA	GRCh38
NC_000009.11:g.99006944_99006945insAAAAAAAAAAAAAAA , CM000671.1:g.99006944_99006945insAAAAAAAAAAAAAAA	GRCh37
NC_000009.10:g.98046765_98046766insAAAAAAAAAAAAAAA	NCBI36
NG_008157.1:g.62491_62492insTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.607-268_607-267insTTTTTTTTTTTTTTT	ENSP00000364411.2:n.607-268_607-267insTTTTTTTTTTTTTTT
ENST00000375263.8:c.607-268_607-267insTTTTTTTTTTTTTTT MANE Select	ENSP00000364412.3:n.607-268_607-267insTTTTTTTTTTTTTTT
ENST00000463517.2:n.2127-246_2127-245insTTTTTTTTTTTTTTT
ENST00000464104.6:n.1545-268_1545-267insTTTTTTTTTTTTTTT
ENST00000467499.6:c.*306-268_*306-267insTTTTTTTTTTTTTTT	ENSP00000498077.1:n.*306-268_*306-267insTTTTTTTTTTTTTTT
ENST00000494814.6:n.119-268_119-267insTTTTTTTTTTTTTTT
ENST00000643789.1:c.2899-268_2899-267insTTTTTTTTTTTTTTT
ENST00000648146.1:c.607-268_607-267insTTTTTTTTTTTTTTT	ENSP00000497238.1:n.607-268_607-267insTTTTTTTTTTTTTTT
ENST00000648332.1:c.284-268_284-267insTTTTTTTTTTTTTTT	ENSP00000497562.1:n.284-268_284-267insTTTTTTTTTTTTTTT
ENST00000648799.1:c.499-268_499-267insTTTTTTTTTTTTTTT	ENSP00000498039.1:n.499-268_499-267insTTTTTTTTTTTTTTT
ENST00000650005.1:c.536-268_536-267insTTTTTTTTTTTTTTT	ENSP00000498121.1:n.536-268_536-267insTTTTTTTTTTTTTTT
ENST00000375262.3:c.607-268_607-267insTTTTTTTTTTTTTTT	ENSP00000364411.2:n.607-268_607-267insTTTTTTTTTTTTTTT
ENST00000375263.7:c.607-268_607-267insTTTTTTTTTTTTTTT	ENSP00000364412.3:n.607-268_607-267insTTTTTTTTTTTTTTT
ENST00000464104.5:n.460-268_460-267insTTTTTTTTTTTTTTT
ENST00000494814.5:n.128-268_128-267insTTTTTTTTTTTTTTT
NM_000197.1:c.607-268_607-267insTTTTTTTTTTTTTTT	NP_000188.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_005251970.3:c.247-268_247-267insTTTTTTTTTTTTTTT	XP_005252027.1:n.247-268_247-267insTTTTTTTTTTTTTTT
XM_011518618.1:c.607-268_607-267insTTTTTTTTTTTTTTT	XP_011516920.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_011518619.1:c.607-268_607-267insTTTTTTTTTTTTTTT	XP_011516921.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_011518620.1:c.499-268_499-267insTTTTTTTTTTTTTTT	XP_011516922.1:n.499-268_499-267insTTTTTTTTTTTTTTT
XM_011518621.1:c.607-268_607-267insTTTTTTTTTTTTTTT	XP_011516923.1:n.607-268_607-267insTTTTTTTTTTTTTTT
NM_000197.2:c.607-268_607-267insTTTTTTTTTTTTTTT MANE Select	NP_000188.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_011518618.2:c.607-268_607-267insTTTTTTTTTTTTTTT	XP_011516920.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_011518619.2:c.607-268_607-267insTTTTTTTTTTTTTTT	XP_011516921.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_017014671.1:c.607-268_607-267insTTTTTTTTTTTTTTT	XP_016870160.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_017014672.1:c.607-268_607-267insTTTTTTTTTTTTTTT	XP_016870161.1:n.607-268_607-267insTTTTTTTTTTTTTTT
XM_017014673.2:c.571-268_571-267insTTTTTTTTTTTTTTT	XP_016870162.1:n.571-268_571-267insTTTTTTTTTTTTTTT
XM_017014674.1:c.499-268_499-267insTTTTTTTTTTTTTTT	XP_016870163.1:n.499-268_499-267insTTTTTTTTTTTTTTT
XM_017014675.1:c.445-268_445-267insTTTTTTTTTTTTTTT	XP_016870164.1:n.445-268_445-267insTTTTTTTTTTTTTTT
XM_017014677.1:c.247-268_247-267insTTTTTTTTTTTTTTT	XP_016870166.1:n.247-268_247-267insTTTTTTTTTTTTTTT
XM_024447529.1:c.445-268_445-267insTTTTTTTTTTTTTTT	XP_024303297.1:n.445-268_445-267insTTTTTTTTTTTTTTT
XR_002956778.1:n.3041-268_3041-267insTTTTTTTTTTTTTTT