Canonical Allele Identifier: CA2690816454

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96241032-ATCTTGAGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96241033_96241042del , CM000671.2:g.96241033_96241042del	GRCh38
NC_000009.11:g.99003315_99003324del , CM000671.1:g.99003315_99003324del	GRCh37
NC_000009.10:g.98043136_98043145del	NCBI36
NG_008157.1:g.66111_66120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.672+3287_672+3296del	ENSP00000364411.2:n.672+3287_672+3296del
ENST00000375263.8:c.673-135_673-126del MANE Select	ENSP00000364412.3:n.673-135_673-126del
ENST00000463517.2:n.2215-135_2215-126del
ENST00000464104.6:n.1611-135_1611-126del
ENST00000467499.6:c.*372-135_*372-126del	ENSP00000498077.1:n.*372-135_*372-126del
ENST00000484816.2:n.24-135_24-126del
ENST00000494814.6:n.223-135_223-126del
ENST00000643789.1:c.2965-135_2965-126del
ENST00000648146.1:c.673-135_673-126del	ENSP00000497238.1:n.673-135_673-126del
ENST00000648332.1:c.350-135_350-126del	ENSP00000497562.1:n.350-135_350-126del
ENST00000648799.1:c.565-135_565-126del	ENSP00000498039.1:n.565-135_565-126del
ENST00000650005.1:c.602-135_602-126del	ENSP00000498121.1:n.602-135_602-126del
ENST00000375262.3:c.672+3287_672+3296del	ENSP00000364411.2:n.672+3287_672+3296del
ENST00000375263.7:c.673-135_673-126del	ENSP00000364412.3:n.673-135_673-126del
ENST00000464104.5:n.526-135_526-126del
ENST00000484816.1:n.23-135_23-126del
ENST00000494814.5:n.232-135_232-126del
NM_000197.1:c.673-135_673-126del	NP_000188.1:n.673-135_673-126del
XM_005251970.3:c.313-135_313-126del	XP_005252027.1:n.313-135_313-126del
XM_011518618.1:c.673-135_673-126del	XP_011516920.1:n.673-135_673-126del
XM_011518619.1:c.673-135_673-126del	XP_011516921.1:n.673-135_673-126del
XM_011518620.1:c.565-135_565-126del	XP_011516922.1:n.565-135_565-126del
XM_011518621.1:c.711-135_711-126del	XP_011516923.1:n.711-135_711-126del
NM_000197.2:c.673-135_673-126del MANE Select	NP_000188.1:n.673-135_673-126del
XM_011518618.2:c.673-135_673-126del	XP_011516920.1:n.673-135_673-126del
XM_011518619.2:c.673-135_673-126del	XP_011516921.1:n.673-135_673-126del
XM_017014671.1:c.673-135_673-126del	XP_016870160.1:n.673-135_673-126del
XM_017014672.1:c.673-135_673-126del	XP_016870161.1:n.673-135_673-126del
XM_017014673.2:c.637-135_637-126del	XP_016870162.1:n.637-135_637-126del
XM_017014674.1:c.565-135_565-126del	XP_016870163.1:n.565-135_565-126del
XM_017014675.1:c.511-135_511-126del	XP_016870164.1:n.511-135_511-126del
XM_017014677.1:c.313-135_313-126del	XP_016870166.1:n.313-135_313-126del
XM_024447529.1:c.511-135_511-126del	XP_024303297.1:n.511-135_511-126del
XR_002956778.1:n.3145-135_3145-126del