Canonical Allele Identifier: CA16040972
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1057516936

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119527169_119527170del , CM000667.2:g.119527169_119527170del GRCh38
NC_000005.9:g.118862864_118862865del , CM000667.1:g.118862864_118862865del GRCh37
NC_000005.8:g.118890763_118890764del NCBI36
NG_008182.1:g.79717_79718del

Transcript Alleles

HGVS Amino-acid change
ENST00000509514.6:c.1648_1649del ENSP00000426272.2:p.Leu550ThrfsTer3
ENST00000518349.6:c.961_962del ENSP00000507185.1:p.Leu321ThrfsTer3
ENST00000520244.6:n.3455_3456del
ENST00000682445.1:c.*1598_*1599del ENSP00000508061.1:n.*1598_*1599del
ENST00000682531.1:n.3609_3610del
ENST00000682626.1:c.*1223_*1224del ENSP00000507857.1:n.*1223_*1224del
ENST00000682996.1:c.1645_1646del ENSP00000507792.1:p.Leu549ThrfsTer3
ENST00000683265.1:n.3503_3504del
ENST00000683335.1:n.3119_3120del
ENST00000683371.1:c.*1847_*1848del ENSP00000508376.1:n.*1847_*1848del
ENST00000683372.1:n.3727_3728del
ENST00000683390.1:n.3407_3408del
ENST00000683476.1:n.559_560del
ENST00000683549.1:n.3331_3332del
ENST00000683936.1:c.*3295_*3296del ENSP00000507721.1:n.*3295_*3296del
ENST00000683974.1:n.3446_3447del
ENST00000683996.1:c.*927_*928del ENSP00000507060.1:n.*927_*928del
ENST00000684131.1:n.3249_3250del
ENST00000684160.1:c.*1407_*1408del ENSP00000507821.1:n.*1407_*1408del
ENST00000684214.1:c.1717_1718del ENSP00000508071.1:p.Leu573ThrfsTer3
ENST00000414835.7:c.1792_1793del ENSP00000411960.3:p.Leu598ThrfsTer3
ENST00000510025.7:c.1717_1718del MANE Select ENSP00000424940.3:p.Leu573ThrfsTer3
ENST00000643250.1:c.*1589_*1590del ENSP00000494737.1:n.*1589_*1590del
ENST00000644146.1:c.*2988_*2989del ENSP00000494808.1:n.*2988_*2989del
ENST00000645099.1:c.1276_1277del ENSP00000496091.1:p.Leu426ThrfsTer3
ENST00000645702.1:c.*1120_*1121del ENSP00000496432.1:n.*1120_*1121del
ENST00000645832.1:c.*1602_*1603del ENSP00000494316.1:n.*1602_*1603del
ENST00000646058.1:c.1717_1718del ENSP00000493579.1:p.Leu573ThrfsTer3
ENST00000646355.1:c.*1723_*1724del ENSP00000493801.1:n.*1723_*1724del
ENST00000646554.1:c.*1695_*1696del ENSP00000494542.1:n.*1695_*1696del
ENST00000647335.1:c.*1684_*1685del ENSP00000495180.1:n.*1684_*1685del
ENST00000647342.1:c.*1648_*1649del ENSP00000494992.1:n.*1648_*1649del
ENST00000256216.10:c.1717_1718del ENSP00000256216.6:p.Leu573ThrfsTer3
ENST00000414835.6:c.1297_1298del ENSP00000411960.2:p.Leu433ThrfsTer3
ENST00000442060.7:c.*279_*280del ENSP00000390208.3:n.*279_*280del
ENST00000504811.5:c.1792_1793del ENSP00000420914.1:p.Leu598ThrfsTer3
ENST00000507353.1:n.325_326del
ENST00000509514.5:c.931_932del ENSP00000426272.1:p.Leu311ThrfsTer3
ENST00000509606.1:n.12_13del
ENST00000509951.5:n.172_173del
ENST00000510025.5:c.1645_1646del ENSP00000424940.1:p.Leu549ThrfsTer3
ENST00000513628.5:c.1306_1307del ENSP00000425993.1:p.Leu436ThrfsTer3
ENST00000515235.6:n.3470_3471del
ENST00000515320.5:c.1663_1664del ENSP00000424613.1:p.Leu555ThrfsTer3
ENST00000522415.5:n.384_385del
NM_000414.3:c.1717_1718del NP_000405.1:p.Leu573ThrfsTer3
NM_001199291.2:c.1792_1793del NP_001186220.1:p.Leu598ThrfsTer3
NM_001199292.1:c.1663_1664del NP_001186221.1:p.Leu555ThrfsTer3
NM_001292027.1:c.1645_1646del NP_001278956.1:p.Leu549ThrfsTer3
NM_001292028.1:c.1297_1298del NP_001278957.1:p.Leu433ThrfsTer3
NM_000414.4:c.1717_1718del MANE Select NP_000405.1:p.Leu573ThrfsTer3
NM_001199291.3:c.1792_1793del NP_001186220.1:p.Leu598ThrfsTer3
NM_001199292.2:c.1663_1664del NP_001186221.1:p.Leu555ThrfsTer3
NM_001292027.2:c.1645_1646del NP_001278956.1:p.Leu549ThrfsTer3
NM_001292028.2:c.1297_1298del NP_001278957.1:p.Leu433ThrfsTer3
NM_001374497.1:c.1708_1709del NP_001361426.1:p.Leu570ThrfsTer3
NM_001374498.1:c.1645_1646del NP_001361427.1:p.Leu549ThrfsTer3
NM_001374499.1:c.1390_1391del NP_001361428.1:p.Leu464ThrfsTer3
NM_001374500.1:c.1276_1277del NP_001361429.1:p.Leu426ThrfsTer3
NM_001374501.1:c.1306_1307del NP_001361430.1:p.Leu436ThrfsTer3
NM_001374502.1:c.1306_1307del NP_001361431.1:p.Leu436ThrfsTer3
NM_001374503.1:c.1306_1307del NP_001361432.1:p.Leu436ThrfsTer3
NR_164653.1:n.1814_1815del
NR_164654.1:n.2082_2083del