Canonical Allele Identifier: CA868865813

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1319950758
• gnomAD v3: 9-96235950-AGT-A
• gnomAD v4: 9-96235950-AGT-A
• MyVariant Identifiers: chr9:g.98998233_98998234del (hg19) ; chr9:g.96235951_96235952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235955_96235956del , CM000671.2:g.96235955_96235956del	GRCh38
NC_000009.11:g.98998237_98998238del , CM000671.1:g.98998237_98998238del	GRCh37
NC_000009.10:g.98038058_98038059del	NCBI36
NG_008157.1:g.71201_71202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.673-382_673-381del	ENSP00000364411.2:n.673-382_673-381del
ENST00000375263.8:c.823-382_823-381del MANE Select	ENSP00000364412.3:n.823-382_823-381del
ENST00000463517.2:n.2365-382_2365-381del
ENST00000464104.6:n.1761-382_1761-381del
ENST00000467499.6:c.*522-382_*522-381del	ENSP00000498077.1:n.*522-382_*522-381del
ENST00000494814.6:n.373-382_373-381del
ENST00000643789.1:c.3115-382_3115-381del
ENST00000648146.1:c.961-382_961-381del	ENSP00000497238.1:n.961-382_961-381del
ENST00000648332.1:c.500-382_500-381del	ENSP00000497562.1:n.500-382_500-381del
ENST00000648799.1:c.715-382_715-381del	ENSP00000498039.1:n.715-382_715-381del
ENST00000650005.1:c.752-382_752-381del	ENSP00000498121.1:n.752-382_752-381del
ENST00000375262.3:c.673-382_673-381del	ENSP00000364411.2:n.673-382_673-381del
ENST00000375263.7:c.823-382_823-381del	ENSP00000364412.3:n.823-382_823-381del
ENST00000464104.5:n.676-382_676-381del
ENST00000467499.5:n.83-382_83-381del
ENST00000494814.5:n.382-382_382-381del
NM_000197.1:c.823-382_823-381del	NP_000188.1:n.823-382_823-381del
XM_005251970.3:c.463-382_463-381del	XP_005252027.1:n.463-382_463-381del
XM_011518618.1:c.823-382_823-381del	XP_011516920.1:n.823-382_823-381del
XM_011518619.1:c.823-382_823-381del	XP_011516921.1:n.823-382_823-381del
XM_011518620.1:c.715-382_715-381del	XP_011516922.1:n.715-382_715-381del
NM_000197.2:c.823-382_823-381del MANE Select	NP_000188.1:n.823-382_823-381del
XM_011518618.2:c.823-382_823-381del	XP_011516920.1:n.823-382_823-381del
XM_011518619.2:c.823-382_823-381del	XP_011516921.1:n.823-382_823-381del
XM_017014671.1:c.823-382_823-381del	XP_016870160.1:n.823-382_823-381del
XM_017014672.1:c.823-382_823-381del	XP_016870161.1:n.823-382_823-381del
XM_017014673.2:c.787-382_787-381del	XP_016870162.1:n.787-382_787-381del
XM_017014674.1:c.715-382_715-381del	XP_016870163.1:n.715-382_715-381del
XM_017014675.1:c.661-382_661-381del	XP_016870164.1:n.661-382_661-381del
XM_017014677.1:c.463-382_463-381del	XP_016870166.1:n.463-382_463-381del
XM_024447529.1:c.661-382_661-381del	XP_024303297.1:n.661-382_661-381del
XR_002956778.1:n.3295-382_3295-381del