Canonical Allele Identifier: CA10605849
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119527148_119527154delinsAA , CM000667.2:g.119527148_119527154delinsAA GRCh38
NC_000005.9:g.118862843_118862849delinsAA , CM000667.1:g.118862843_118862849delinsAA GRCh37
NC_000005.8:g.118890742_118890748delinsAA NCBI36
NG_008182.1:g.79696_79702delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1627_1633delinsAA ENSP00000426272.2:p.Pro543LysfsTer9
ENST00000518349.6:c.940_946delinsAA ENSP00000507185.1:p.Pro314LysfsTer9
ENST00000520244.6:n.3434_3440delinsAA
ENST00000682445.1:c.*1577_*1583delinsAA ENSP00000508061.1:n.*1577_*1583delinsAA
ENST00000682531.1:n.3588_3594delinsAA
ENST00000682626.1:c.*1202_*1208delinsAA ENSP00000507857.1:n.*1202_*1208delinsAA
ENST00000682996.1:c.1624_1630delinsAA ENSP00000507792.1:p.Pro542LysfsTer9
ENST00000683265.1:n.3482_3488delinsAA
ENST00000683335.1:n.3098_3104delinsAA
ENST00000683371.1:c.*1826_*1832delinsAA ENSP00000508376.1:n.*1826_*1832delinsAA
ENST00000683372.1:n.3706_3712delinsAA
ENST00000683390.1:n.3386_3392delinsAA
ENST00000683476.1:n.538_544delinsAA
ENST00000683549.1:n.3310_3316delinsAA
ENST00000683936.1:c.*3274_*3280delinsAA ENSP00000507721.1:n.*3274_*3280delinsAA
ENST00000683974.1:n.3425_3431delinsAA
ENST00000683996.1:c.*906_*912delinsAA ENSP00000507060.1:n.*906_*912delinsAA
ENST00000684131.1:n.3228_3234delinsAA
ENST00000684160.1:c.*1386_*1392delinsAA ENSP00000507821.1:n.*1386_*1392delinsAA
ENST00000684214.1:c.1696_1702delinsAA ENSP00000508071.1:p.Pro566LysfsTer9
ENST00000414835.7:c.1771_1777delinsAA ENSP00000411960.3:p.Pro591LysfsTer9
ENST00000510025.7:c.1696_1702delinsAA MANE Select ENSP00000424940.3:p.Pro566LysfsTer9
ENST00000643250.1:c.*1568_*1574delinsAA ENSP00000494737.1:n.*1568_*1574delinsAA
ENST00000644146.1:c.*2967_*2973delinsAA ENSP00000494808.1:n.*2967_*2973delinsAA
ENST00000645099.1:c.1255_1261delinsAA ENSP00000496091.1:p.Pro419LysfsTer9
ENST00000645702.1:c.*1099_*1105delinsAA ENSP00000496432.1:n.*1099_*1105delinsAA
ENST00000645832.1:c.*1581_*1587delinsAA ENSP00000494316.1:n.*1581_*1587delinsAA
ENST00000646058.1:c.1696_1702delinsAA ENSP00000493579.1:p.Pro566LysfsTer9
ENST00000646355.1:c.*1702_*1708delinsAA ENSP00000493801.1:n.*1702_*1708delinsAA
ENST00000646554.1:c.*1674_*1680delinsAA ENSP00000494542.1:n.*1674_*1680delinsAA
ENST00000647335.1:c.*1663_*1669delinsAA ENSP00000495180.1:n.*1663_*1669delinsAA
ENST00000647342.1:c.*1627_*1633delinsAA ENSP00000494992.1:n.*1627_*1633delinsAA
ENST00000256216.10:c.1696_1702delinsAA ENSP00000256216.6:p.Pro566LysfsTer9
ENST00000414835.6:c.1276_1282delinsAA ENSP00000411960.2:p.Pro426LysfsTer9
ENST00000442060.7:c.*258_*264delinsAA ENSP00000390208.3:n.*258_*264delinsAA
ENST00000504811.5:c.1771_1777delinsAA ENSP00000420914.1:p.Pro591LysfsTer9
ENST00000507353.1:n.304_310delinsAA
ENST00000509514.5:c.910_916delinsAA ENSP00000426272.1:p.Pro304LysfsTer9
ENST00000509951.5:n.151_157delinsAA
ENST00000510025.5:c.1624_1630delinsAA ENSP00000424940.1:p.Pro542LysfsTer9
ENST00000513628.5:c.1285_1291delinsAA ENSP00000425993.1:p.Pro429LysfsTer9
ENST00000515235.6:n.3449_3455delinsAA
ENST00000515320.5:c.1642_1648delinsAA ENSP00000424613.1:p.Pro548LysfsTer9
ENST00000522415.5:n.363_369delinsAA
NM_000414.3:c.1696_1702delinsAA NP_000405.1:p.Pro566LysfsTer9
NM_001199291.2:c.1771_1777delinsAA NP_001186220.1:p.Pro591LysfsTer9
NM_001199292.1:c.1642_1648delinsAA NP_001186221.1:p.Pro548LysfsTer9
NM_001292027.1:c.1624_1630delinsAA NP_001278956.1:p.Pro542LysfsTer9
NM_001292028.1:c.1276_1282delinsAA NP_001278957.1:p.Pro426LysfsTer9
NM_000414.4:c.1696_1702delinsAA MANE Select NP_000405.1:p.Pro566LysfsTer9
NM_001199291.3:c.1771_1777delinsAA NP_001186220.1:p.Pro591LysfsTer9
NM_001199292.2:c.1642_1648delinsAA NP_001186221.1:p.Pro548LysfsTer9
NM_001292027.2:c.1624_1630delinsAA NP_001278956.1:p.Pro542LysfsTer9
NM_001292028.2:c.1276_1282delinsAA NP_001278957.1:p.Pro426LysfsTer9
NM_001374497.1:c.1687_1693delinsAA NP_001361426.1:p.Pro563LysfsTer9
NM_001374498.1:c.1624_1630delinsAA NP_001361427.1:p.Pro542LysfsTer9
NM_001374499.1:c.1369_1375delinsAA NP_001361428.1:p.Pro457LysfsTer9
NM_001374500.1:c.1255_1261delinsAA NP_001361429.1:p.Pro419LysfsTer9
NM_001374501.1:c.1285_1291delinsAA NP_001361430.1:p.Pro429LysfsTer9
NM_001374502.1:c.1285_1291delinsAA NP_001361431.1:p.Pro429LysfsTer9
NM_001374503.1:c.1285_1291delinsAA NP_001361432.1:p.Pro429LysfsTer9
NR_164653.1:n.1793_1799delinsAA
NR_164654.1:n.2061_2067delinsAA