Canonical Allele Identifier: CA16040962
Gene: HSD17B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370202
ClinVar RCV Id: RCV000410593
dbSNP Id: rs1057516310

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119479006_119479009del , CM000667.2:g.119479006_119479009del GRCh38
NC_000005.9:g.118814701_118814704del , CM000667.1:g.118814701_118814704del GRCh37
NC_000005.8:g.118842600_118842603del NCBI36
NG_008182.1:g.31554_31557del

Transcript Alleles

HGVS Amino-acid change
ENST00000509514.6:c.607_610del ENSP00000426272.2:p.Thr203LeufsTer10
ENST00000518349.6:c.113-17537_113-17534del ENSP00000507185.1:n.113-17537_113-17534de...
ENST00000682445.1:c.*488_*491del ENSP00000508061.1:n.*488_*491del
ENST00000682531.1:n.708_711del
ENST00000682626.1:c.*113_*116del ENSP00000507857.1:n.*113_*116del
ENST00000682996.1:c.607_610del ENSP00000507792.1:p.Thr203LeufsTer10
ENST00000683265.1:n.700_703del
ENST00000683371.1:c.*737_*740del ENSP00000508376.1:n.*737_*740del
ENST00000683390.1:n.2297_2300del
ENST00000683549.1:n.528_531del
ENST00000683936.1:c.*492_*495del ENSP00000507721.1:n.*492_*495del
ENST00000683974.1:n.689_692del
ENST00000683996.1:c.196_199del ENSP00000507060.1:p.Thr66LeufsTer10
ENST00000684131.1:n.446_449del
ENST00000684160.1:c.*297_*300del ENSP00000507821.1:n.*297_*300del
ENST00000684214.1:c.607_610del ENSP00000508071.1:p.Thr203LeufsTer10
ENST00000414835.7:c.682_685del ENSP00000411960.3:p.Thr228LeufsTer10
ENST00000510025.7:c.607_610del MANE Select ENSP00000424940.3:p.Thr203LeufsTer10
ENST00000643250.1:c.*479_*482del ENSP00000494737.1:n.*479_*482del
ENST00000644146.1:c.*185_*188del ENSP00000494808.1:n.*185_*188del
ENST00000645099.1:c.166_169del ENSP00000496091.1:p.Thr56LeufsTer10
ENST00000645702.1:c.196_199del ENSP00000496432.1:p.Thr66LeufsTer14
ENST00000645832.1:c.*492_*495del ENSP00000494316.1:n.*492_*495del
ENST00000646058.1:c.607_610del ENSP00000493579.1:p.Thr203LeufsTer10
ENST00000646355.1:c.*613_*616del ENSP00000493801.1:n.*613_*616del
ENST00000646554.1:c.*585_*588del ENSP00000494542.1:n.*585_*588del
ENST00000647335.1:c.*574_*577del ENSP00000495180.1:n.*574_*577del
ENST00000647342.1:c.*538_*541del ENSP00000494992.1:n.*538_*541del
ENST00000256216.10:c.607_610del ENSP00000256216.6:p.Thr203LeufsTer10
ENST00000414835.6:c.187_190del ENSP00000411960.2:p.Thr63LeufsTer10
ENST00000442060.7:c.607_610del ENSP00000390208.3:p.Thr203LeufsTer10
ENST00000504811.5:c.682_685del ENSP00000420914.1:p.Thr228LeufsTer10
ENST00000505181.5:n.310_313del
ENST00000509514.5:c.-278_-275del ENSP00000426272.1:n.-278_-275del
ENST00000510025.5:c.535_538del ENSP00000424940.1:p.Thr179LeufsTer10
ENST00000512644.1:n.175_178del
ENST00000513628.5:c.196_199del ENSP00000425993.1:p.Thr66LeufsTer10
ENST00000515235.6:n.667_670del
ENST00000515320.5:c.553_556del ENSP00000424613.1:p.Thr185LeufsTer10
NM_000414.3:c.607_610del NP_000405.1:p.Thr203LeufsTer10
NM_001199291.2:c.682_685del NP_001186220.1:p.Thr228LeufsTer10
NM_001199292.1:c.553_556del NP_001186221.1:p.Thr185LeufsTer10
NM_001292027.1:c.535_538del NP_001278956.1:p.Thr179LeufsTer10
NM_001292028.1:c.187_190del NP_001278957.1:p.Thr63LeufsTer10
NM_000414.4:c.607_610del MANE Select NP_000405.1:p.Thr203LeufsTer10
NM_001199291.3:c.682_685del NP_001186220.1:p.Thr228LeufsTer10
NM_001199292.2:c.553_556del NP_001186221.1:p.Thr185LeufsTer10
NM_001292027.2:c.535_538del NP_001278956.1:p.Thr179LeufsTer10
NM_001292028.2:c.187_190del NP_001278957.1:p.Thr63LeufsTer10
NM_001374497.1:c.598_601del NP_001361426.1:p.Thr200LeufsTer10
NM_001374498.1:c.607_610del NP_001361427.1:p.Thr203LeufsTer10
NM_001374499.1:c.280_283del NP_001361428.1:p.Thr94LeufsTer10
NM_001374500.1:c.166_169del NP_001361429.1:p.Thr56LeufsTer10
NM_001374501.1:c.196_199del NP_001361430.1:p.Thr66LeufsTer10
NM_001374502.1:c.196_199del NP_001361431.1:p.Thr66LeufsTer10
NM_001374503.1:c.196_199del NP_001361432.1:p.Thr66LeufsTer10
NR_164653.1:n.686_689del
NR_164654.1:n.874_877del