Canonical Allele Identifier: CA2573138659

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1458501
• ClinVar RCV Id: RCV001975004 ; RCV003989742
• dbSNP Id: rs2126703227

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479004dup , CM000667.2:g.119479004dup	GRCh38
NC_000005.9:g.118814699dup , CM000667.1:g.118814699dup	GRCh37
NC_000005.8:g.118842598dup	NCBI36
NG_008182.1:g.31552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.605dup	ENSP00000426272.2:p.Thr203AspfsTer5
ENST00000518349.6:c.113-17539dup	ENSP00000507185.1:n.113-17539dup
ENST00000682445.1:c.*486dup	ENSP00000508061.1:n.*486dup
ENST00000682531.1:n.706dup
ENST00000682626.1:c.*111dup	ENSP00000507857.1:n.*111dup
ENST00000682996.1:c.605dup	ENSP00000507792.1:p.Thr203AspfsTer5
ENST00000683265.1:n.698dup
ENST00000683371.1:c.*735dup	ENSP00000508376.1:n.*735dup
ENST00000683390.1:n.2295dup
ENST00000683549.1:n.526dup
ENST00000683936.1:c.*490dup	ENSP00000507721.1:n.*490dup
ENST00000683974.1:n.687dup
ENST00000683996.1:c.194dup	ENSP00000507060.1:p.Thr66AspfsTer5
ENST00000684131.1:n.444dup
ENST00000684160.1:c.*295dup	ENSP00000507821.1:n.*295dup
ENST00000684214.1:c.605dup	ENSP00000508071.1:p.Thr203AspfsTer5
ENST00000414835.7:c.680dup	ENSP00000411960.3:p.Thr228AspfsTer5
ENST00000510025.7:c.605dup MANE Select	ENSP00000424940.3:p.Thr203AspfsTer5
ENST00000643250.1:c.*477dup	ENSP00000494737.1:n.*477dup
ENST00000644146.1:c.*183dup	ENSP00000494808.1:n.*183dup
ENST00000645099.1:c.164dup	ENSP00000496091.1:p.Thr56AspfsTer5
ENST00000645702.1:c.194dup	ENSP00000496432.1:p.Thr66AspfsTer5
ENST00000645832.1:c.*490dup	ENSP00000494316.1:n.*490dup
ENST00000646058.1:c.605dup	ENSP00000493579.1:p.Thr203AspfsTer5
ENST00000646355.1:c.*611dup	ENSP00000493801.1:n.*611dup
ENST00000646554.1:c.*583dup	ENSP00000494542.1:n.*583dup
ENST00000647335.1:c.*572dup	ENSP00000495180.1:n.*572dup
ENST00000647342.1:c.*536dup	ENSP00000494992.1:n.*536dup
ENST00000256216.10:c.605dup	ENSP00000256216.6:p.Thr203AspfsTer5
ENST00000414835.6:c.185dup	ENSP00000411960.2:p.Thr63AspfsTer5
ENST00000442060.7:c.605dup	ENSP00000390208.3:p.Thr203AspfsTer5
ENST00000504811.5:c.680dup	ENSP00000420914.1:p.Thr228AspfsTer5
ENST00000505181.5:n.308dup
ENST00000509514.5:c.-280dup	ENSP00000426272.1:n.-280dup
ENST00000510025.5:c.533dup	ENSP00000424940.1:p.Thr179AspfsTer5
ENST00000512644.1:n.173dup
ENST00000513628.5:c.194dup	ENSP00000425993.1:p.Thr66AspfsTer5
ENST00000515235.6:n.665dup
ENST00000515320.5:c.551dup	ENSP00000424613.1:p.Thr185AspfsTer5
NM_000414.3:c.605dup	NP_000405.1:p.Thr203AspfsTer5
NM_001199291.2:c.680dup	NP_001186220.1:p.Thr228AspfsTer5
NM_001199292.1:c.551dup	NP_001186221.1:p.Thr185AspfsTer5
NM_001292027.1:c.533dup	NP_001278956.1:p.Thr179AspfsTer5
NM_001292028.1:c.185dup	NP_001278957.1:p.Thr63AspfsTer5
NM_000414.4:c.605dup MANE Select	NP_000405.1:p.Thr203AspfsTer5
NM_001199291.3:c.680dup	NP_001186220.1:p.Thr228AspfsTer5
NM_001199292.2:c.551dup	NP_001186221.1:p.Thr185AspfsTer5
NM_001292027.2:c.533dup	NP_001278956.1:p.Thr179AspfsTer5
NM_001292028.2:c.185dup	NP_001278957.1:p.Thr63AspfsTer5
NM_001374497.1:c.596dup	NP_001361426.1:p.Thr200AspfsTer5
NM_001374498.1:c.605dup	NP_001361427.1:p.Thr203AspfsTer5
NM_001374499.1:c.278dup	NP_001361428.1:p.Thr94AspfsTer5
NM_001374500.1:c.164dup	NP_001361429.1:p.Thr56AspfsTer5
NM_001374501.1:c.194dup	NP_001361430.1:p.Thr66AspfsTer5
NM_001374502.1:c.194dup	NP_001361431.1:p.Thr66AspfsTer5
NM_001374503.1:c.194dup	NP_001361432.1:p.Thr66AspfsTer5
NR_164653.1:n.684dup
NR_164654.1:n.872dup