Canonical Allele Identifier: CA2674979947
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478845_119478861dup , CM000667.2:g.119478845_119478861dup GRCh38
NC_000005.9:g.118814540_118814556dup , CM000667.1:g.118814540_118814556dup GRCh37
NC_000005.8:g.118842439_118842455dup NCBI36
NG_008182.1:g.31393_31409dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.446_462dup ENSP00000426272.2:p.Ile155LeufsTer?
ENST00000518349.6:c.113-17698_113-17682dup ENSP00000507185.1:n.113-17698_113-17682dup
ENST00000682445.1:c.*327_*343dup ENSP00000508061.1:n.*327_*343dup
ENST00000682531.1:n.547_563dup
ENST00000682626.1:c.474_490dup ENSP00000507857.1:p.Asn164ThrfsTer?
ENST00000682996.1:c.446_462dup ENSP00000507792.1:p.Ile155LeufsTer?
ENST00000683265.1:n.539_555dup
ENST00000683371.1:c.*576_*592dup ENSP00000508376.1:n.*576_*592dup
ENST00000683390.1:n.2136_2152dup
ENST00000683549.1:n.367_383dup
ENST00000683936.1:c.*331_*347dup ENSP00000507721.1:n.*331_*347dup
ENST00000683974.1:n.528_544dup
ENST00000683996.1:c.35_51dup ENSP00000507060.1:p.Ile18LeufsTer?
ENST00000684131.1:n.285_301dup
ENST00000684160.1:c.*136_*152dup ENSP00000507821.1:n.*136_*152dup
ENST00000684214.1:c.446_462dup ENSP00000508071.1:p.Ile155LeufsTer?
ENST00000414835.7:c.521_537dup ENSP00000411960.3:p.Ile180LeufsTer?
ENST00000510025.7:c.446_462dup MANE Select ENSP00000424940.3:p.Ile155LeufsTer?
ENST00000643250.1:c.*318_*334dup ENSP00000494737.1:n.*318_*334dup
ENST00000644146.1:c.*24_*40dup ENSP00000494808.1:n.*24_*40dup
ENST00000645099.1:c.5_21dup ENSP00000496091.1:p.Ile8LeufsTer?
ENST00000645702.1:c.35_51dup ENSP00000496432.1:p.Ile18LeufsTer?
ENST00000645832.1:c.*331_*347dup ENSP00000494316.1:n.*331_*347dup
ENST00000646058.1:c.446_462dup ENSP00000493579.1:p.Ile155LeufsTer?
ENST00000646355.1:c.*452_*468dup ENSP00000493801.1:n.*452_*468dup
ENST00000646554.1:c.*424_*440dup ENSP00000494542.1:n.*424_*440dup
ENST00000646590.1:c.437_453dup ENSP00000494892.1:p.Ile152LeufsTer?
ENST00000647335.1:c.*413_*429dup ENSP00000495180.1:n.*413_*429dup
ENST00000647342.1:c.*377_*393dup ENSP00000494992.1:n.*377_*393dup
ENST00000256216.10:c.446_462dup ENSP00000256216.6:p.Ile155LeufsTer?
ENST00000414835.6:c.26_42dup ENSP00000411960.2:p.Ile15LeufsTer?
ENST00000442060.7:c.446_462dup ENSP00000390208.3:p.Ile155LeufsTer?
ENST00000503168.5:n.435_451dup
ENST00000504811.5:c.521_537dup ENSP00000420914.1:p.Ile180LeufsTer?
ENST00000505181.5:n.149_165dup
ENST00000508788.5:n.348_364dup
ENST00000509514.5:c.-439_-423dup ENSP00000426272.1:n.-439_-423dup
ENST00000510025.5:c.374_390dup ENSP00000424940.1:p.Ile131LeufsTer?
ENST00000512644.1:n.14_30dup
ENST00000512841.5:n.494_510dup
ENST00000513628.5:c.35_51dup ENSP00000425993.1:p.Ile18LeufsTer?
ENST00000515235.6:n.506_522dup
ENST00000515320.5:c.392_408dup ENSP00000424613.1:p.Ile137LeufsTer?
NM_000414.3:c.446_462dup NP_000405.1:p.Ile155LeufsTer?
NM_001199291.2:c.521_537dup NP_001186220.1:p.Ile180LeufsTer?
NM_001199292.1:c.392_408dup NP_001186221.1:p.Ile137LeufsTer?
NM_001292027.1:c.374_390dup NP_001278956.1:p.Ile131LeufsTer?
NM_001292028.1:c.26_42dup NP_001278957.1:p.Ile15LeufsTer?
NM_000414.4:c.446_462dup MANE Select NP_000405.1:p.Ile155LeufsTer?
NM_001199291.3:c.521_537dup NP_001186220.1:p.Ile180LeufsTer?
NM_001199292.2:c.392_408dup NP_001186221.1:p.Ile137LeufsTer?
NM_001292027.2:c.374_390dup NP_001278956.1:p.Ile131LeufsTer?
NM_001292028.2:c.26_42dup NP_001278957.1:p.Ile15LeufsTer?
NM_001374497.1:c.437_453dup NP_001361426.1:p.Ile152LeufsTer?
NM_001374498.1:c.446_462dup NP_001361427.1:p.Ile155LeufsTer?
NM_001374499.1:c.119_135dup NP_001361428.1:p.Ile46LeufsTer?
NM_001374500.1:c.5_21dup NP_001361429.1:p.Ile8LeufsTer?
NM_001374501.1:c.35_51dup NP_001361430.1:p.Ile18LeufsTer?
NM_001374502.1:c.35_51dup NP_001361431.1:p.Ile18LeufsTer?
NM_001374503.1:c.35_51dup NP_001361432.1:p.Ile18LeufsTer?
NR_164653.1:n.525_541dup
NR_164654.1:n.713_729dup