Canonical Allele Identifier: CA2580072393

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2134953
• ClinVar RCV Id: RCV003048391

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478960dup , CM000667.2:g.119478960dup	GRCh38
NC_000005.9:g.118814655dup , CM000667.1:g.118814655dup	GRCh37
NC_000005.8:g.118842554dup	NCBI36
NG_008182.1:g.31508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.561dup	ENSP00000426272.2:p.His188SerfsTer3
ENST00000518349.6:c.113-17583dup	ENSP00000507185.1:n.113-17583dup
ENST00000682445.1:c.*442dup	ENSP00000508061.1:n.*442dup
ENST00000682531.1:n.662dup
ENST00000682626.1:c.*67dup	ENSP00000507857.1:n.*67dup
ENST00000682996.1:c.561dup	ENSP00000507792.1:p.His188SerfsTer3
ENST00000683265.1:n.654dup
ENST00000683371.1:c.*691dup	ENSP00000508376.1:n.*691dup
ENST00000683390.1:n.2251dup
ENST00000683549.1:n.482dup
ENST00000683936.1:c.*446dup	ENSP00000507721.1:n.*446dup
ENST00000683974.1:n.643dup
ENST00000683996.1:c.150dup	ENSP00000507060.1:p.His51SerfsTer3
ENST00000684131.1:n.400dup
ENST00000684160.1:c.*251dup	ENSP00000507821.1:n.*251dup
ENST00000684214.1:c.561dup	ENSP00000508071.1:p.His188SerfsTer3
ENST00000414835.7:c.636dup	ENSP00000411960.3:p.His213SerfsTer3
ENST00000510025.7:c.561dup MANE Select	ENSP00000424940.3:p.His188SerfsTer3
ENST00000643250.1:c.*433dup	ENSP00000494737.1:n.*433dup
ENST00000644146.1:c.*139dup	ENSP00000494808.1:n.*139dup
ENST00000645099.1:c.120dup	ENSP00000496091.1:p.His41SerfsTer3
ENST00000645702.1:c.150dup	ENSP00000496432.1:p.His51SerfsTer3
ENST00000645832.1:c.*446dup	ENSP00000494316.1:n.*446dup
ENST00000646058.1:c.561dup	ENSP00000493579.1:p.His188SerfsTer3
ENST00000646355.1:c.*567dup	ENSP00000493801.1:n.*567dup
ENST00000646554.1:c.*539dup	ENSP00000494542.1:n.*539dup
ENST00000647335.1:c.*528dup	ENSP00000495180.1:n.*528dup
ENST00000647342.1:c.*492dup	ENSP00000494992.1:n.*492dup
ENST00000256216.10:c.561dup	ENSP00000256216.6:p.His188SerfsTer3
ENST00000414835.6:c.141dup	ENSP00000411960.2:p.His48SerfsTer3
ENST00000442060.7:c.561dup	ENSP00000390208.3:p.His188SerfsTer3
ENST00000503168.5:n.550dup
ENST00000504811.5:c.636dup	ENSP00000420914.1:p.His213SerfsTer3
ENST00000505181.5:n.264dup
ENST00000509514.5:c.-324dup	ENSP00000426272.1:n.-324dup
ENST00000510025.5:c.489dup	ENSP00000424940.1:p.His164SerfsTer3
ENST00000512644.1:n.129dup
ENST00000513628.5:c.150dup	ENSP00000425993.1:p.His51SerfsTer3
ENST00000515235.6:n.621dup
ENST00000515320.5:c.507dup	ENSP00000424613.1:p.His170SerfsTer3
NM_000414.3:c.561dup	NP_000405.1:p.His188SerfsTer3
NM_001199291.2:c.636dup	NP_001186220.1:p.His213SerfsTer3
NM_001199292.1:c.507dup	NP_001186221.1:p.His170SerfsTer3
NM_001292027.1:c.489dup	NP_001278956.1:p.His164SerfsTer3
NM_001292028.1:c.141dup	NP_001278957.1:p.His48SerfsTer3
NM_000414.4:c.561dup MANE Select	NP_000405.1:p.His188SerfsTer3
NM_001199291.3:c.636dup	NP_001186220.1:p.His213SerfsTer3
NM_001199292.2:c.507dup	NP_001186221.1:p.His170SerfsTer3
NM_001292027.2:c.489dup	NP_001278956.1:p.His164SerfsTer3
NM_001292028.2:c.141dup	NP_001278957.1:p.His48SerfsTer3
NM_001374497.1:c.552dup	NP_001361426.1:p.His185SerfsTer3
NM_001374498.1:c.561dup	NP_001361427.1:p.His188SerfsTer3
NM_001374499.1:c.234dup	NP_001361428.1:p.His79SerfsTer3
NM_001374500.1:c.120dup	NP_001361429.1:p.His41SerfsTer3
NM_001374501.1:c.150dup	NP_001361430.1:p.His51SerfsTer3
NM_001374502.1:c.150dup	NP_001361431.1:p.His51SerfsTer3
NM_001374503.1:c.150dup	NP_001361432.1:p.His51SerfsTer3
NR_164653.1:n.640dup
NR_164654.1:n.828dup