Canonical Allele Identifier: CA16040968
Gene: HSD17B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371150
dbSNP Id: rs1057517045

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119506856_119506859del , CM000667.2:g.119506856_119506859del GRCh38
NC_000005.9:g.118842551_118842554del , CM000667.1:g.118842551_118842554del GRCh37
NC_000005.8:g.118870450_118870453del NCBI36
NG_008182.1:g.59404_59407del

Transcript Alleles

HGVS Amino-acid change
ENST00000509514.6:c.1300_1303del ENSP00000426272.2:p.Asp434LysfsTer5
ENST00000518349.6:c.544_547del ENSP00000507185.1:p.Asp182LysfsTer5
ENST00000682445.1:c.*1181_*1184del ENSP00000508061.1:n.*1181_*1184del
ENST00000682531.1:n.3192_3195del
ENST00000682626.1:c.*806_*809del ENSP00000507857.1:n.*806_*809del
ENST00000682996.1:c.1262-2285_1262-2282del ENSP00000507792.1:n.1262-2285_1262-2282de...
ENST00000683265.1:n.3086_3089del
ENST00000683371.1:c.*1430_*1433del ENSP00000508376.1:n.*1430_*1433del
ENST00000683372.1:n.3310_3313del
ENST00000683390.1:n.2990_2993del
ENST00000683549.1:n.2914_2917del
ENST00000683936.1:c.*2878_*2881del ENSP00000507721.1:n.*2878_*2881del
ENST00000683974.1:n.3075_3078del
ENST00000683996.1:c.*510_*513del ENSP00000507060.1:n.*510_*513del
ENST00000684131.1:n.2832_2835del
ENST00000684160.1:c.*990_*993del ENSP00000507821.1:n.*990_*993del
ENST00000684214.1:c.1300_1303del ENSP00000508071.1:p.Asp434LysfsTer5
ENST00000414835.7:c.1375_1378del ENSP00000411960.3:p.Asp459LysfsTer5
ENST00000510025.7:c.1300_1303del MANE Select ENSP00000424940.3:p.Asp434LysfsTer5
ENST00000643250.1:c.*1172_*1175del ENSP00000494737.1:n.*1172_*1175del
ENST00000644146.1:c.*2571_*2574del ENSP00000494808.1:n.*2571_*2574del
ENST00000645099.1:c.859_862del ENSP00000496091.1:p.Asp287LysfsTer5
ENST00000645702.1:c.*703_*706del ENSP00000496432.1:n.*703_*706del
ENST00000645832.1:c.*1185_*1188del ENSP00000494316.1:n.*1185_*1188del
ENST00000646058.1:c.1300_1303del ENSP00000493579.1:p.Asp434LysfsTer5
ENST00000646355.1:c.*1306_*1309del ENSP00000493801.1:n.*1306_*1309del
ENST00000646554.1:c.*1278_*1281del ENSP00000494542.1:n.*1278_*1281del
ENST00000647335.1:c.*1267_*1270del ENSP00000495180.1:n.*1267_*1270del
ENST00000647342.1:c.*1231_*1234del ENSP00000494992.1:n.*1231_*1234del
ENST00000256216.10:c.1300_1303del ENSP00000256216.6:p.Asp434LysfsTer5
ENST00000414835.6:c.880_883del ENSP00000411960.2:p.Asp294LysfsTer5
ENST00000442060.7:c.1300_1303del ENSP00000390208.3:p.Asp434LysfsTer5
ENST00000504811.5:c.1375_1378del ENSP00000420914.1:p.Asp459LysfsTer5
ENST00000509514.5:c.514_517del ENSP00000426272.1:p.Asp172LysfsTer5
ENST00000510025.5:c.1228_1231del ENSP00000424940.1:p.Asp410LysfsTer5
ENST00000513628.5:c.889_892del ENSP00000425993.1:p.Asp297LysfsTer5
ENST00000515235.6:n.3053_3056del
ENST00000515320.5:c.1246_1249del ENSP00000424613.1:p.Asp416LysfsTer5
ENST00000518349.5:n.434_437del
ENST00000520244.5:n.83_86del
NM_000414.3:c.1300_1303del NP_000405.1:p.Asp434LysfsTer5
NM_001199291.2:c.1375_1378del NP_001186220.1:p.Asp459LysfsTer5
NM_001199292.1:c.1246_1249del NP_001186221.1:p.Asp416LysfsTer5
NM_001292027.1:c.1228_1231del NP_001278956.1:p.Asp410LysfsTer5
NM_001292028.1:c.880_883del NP_001278957.1:p.Asp294LysfsTer5
NM_000414.4:c.1300_1303del MANE Select NP_000405.1:p.Asp434LysfsTer5
NM_001199291.3:c.1375_1378del NP_001186220.1:p.Asp459LysfsTer5
NM_001199292.2:c.1246_1249del NP_001186221.1:p.Asp416LysfsTer5
NM_001292027.2:c.1228_1231del NP_001278956.1:p.Asp410LysfsTer5
NM_001292028.2:c.880_883del NP_001278957.1:p.Asp294LysfsTer5
NM_001374497.1:c.1291_1294del NP_001361426.1:p.Asp431LysfsTer5
NM_001374498.1:c.1262-2285_1262-2282del NP_001361427.1:n.1262-2285_1262-2282del
NM_001374499.1:c.973_976del NP_001361428.1:p.Asp325LysfsTer5
NM_001374500.1:c.859_862del NP_001361429.1:p.Asp287LysfsTer5
NM_001374501.1:c.889_892del NP_001361430.1:p.Asp297LysfsTer5
NM_001374502.1:c.889_892del NP_001361431.1:p.Asp297LysfsTer5
NM_001374503.1:c.889_892del NP_001361432.1:p.Asp297LysfsTer5
NR_164653.1:n.1397_1400del
NR_164654.1:n.1665_1668del