Canonical Allele Identifier: CA16040970
Gene: HSD17B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370908
ClinVar RCV Id: RCV000409302
dbSNP Id: rs1057516859

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119514983_119514984del , CM000667.2:g.119514983_119514984del GRCh38
NC_000005.9:g.118850678_118850679del , CM000667.1:g.118850678_118850679del GRCh37
NC_000005.8:g.118878577_118878578del NCBI36
NG_008182.1:g.67531_67532del

Transcript Alleles

HGVS Amino-acid change
ENST00000509514.6:c.1371_1372del ENSP00000426272.2:p.Ala458CysfsTer5
ENST00000518349.6:c.684_685del ENSP00000507185.1:p.Ala229CysfsTer5
ENST00000520244.6:n.3178_3179del
ENST00000682445.1:c.*1321_*1322del ENSP00000508061.1:n.*1321_*1322del
ENST00000682531.1:n.3332_3333del
ENST00000682626.1:c.*946_*947del ENSP00000507857.1:n.*946_*947del
ENST00000682996.1:c.1368_1369del ENSP00000507792.1:p.Ala457CysfsTer5
ENST00000683265.1:n.3226_3227del
ENST00000683335.1:n.2842_2843del
ENST00000683371.1:c.*1570_*1571del ENSP00000508376.1:n.*1570_*1571del
ENST00000683372.1:n.3450_3451del
ENST00000683390.1:n.3130_3131del
ENST00000683549.1:n.3054_3055del
ENST00000683936.1:c.*3018_*3019del ENSP00000507721.1:n.*3018_*3019del
ENST00000683974.1:n.3213-44_3213-43del
ENST00000683996.1:c.*650_*651del ENSP00000507060.1:n.*650_*651del
ENST00000684131.1:n.2972_2973del
ENST00000684160.1:c.*1130_*1131del ENSP00000507821.1:n.*1130_*1131del
ENST00000684214.1:c.1440_1441del ENSP00000508071.1:p.Ala481CysfsTer5
ENST00000414835.7:c.1515_1516del ENSP00000411960.3:p.Ala506CysfsTer5
ENST00000510025.7:c.1440_1441del MANE Select ENSP00000424940.3:p.Ala481CysfsTer5
ENST00000643250.1:c.*1312_*1313del ENSP00000494737.1:n.*1312_*1313del
ENST00000644146.1:c.*2711_*2712del ENSP00000494808.1:n.*2711_*2712del
ENST00000645099.1:c.999_1000del ENSP00000496091.1:p.Ala334CysfsTer5
ENST00000645702.1:c.*843_*844del ENSP00000496432.1:n.*843_*844del
ENST00000645832.1:c.*1325_*1326del ENSP00000494316.1:n.*1325_*1326del
ENST00000646058.1:c.1440_1441del ENSP00000493579.1:p.Ala481CysfsTer5
ENST00000646355.1:c.*1446_*1447del ENSP00000493801.1:n.*1446_*1447del
ENST00000646554.1:c.*1418_*1419del ENSP00000494542.1:n.*1418_*1419del
ENST00000647335.1:c.*1407_*1408del ENSP00000495180.1:n.*1407_*1408del
ENST00000647342.1:c.*1371_*1372del ENSP00000494992.1:n.*1371_*1372del
ENST00000256216.10:c.1440_1441del ENSP00000256216.6:p.Ala481CysfsTer5
ENST00000414835.6:c.1020_1021del ENSP00000411960.2:p.Ala341CysfsTer5
ENST00000442060.7:c.*2_*3del ENSP00000390208.3:n.*2_*3del
ENST00000504811.5:c.1515_1516del ENSP00000420914.1:p.Ala506CysfsTer5
ENST00000509514.5:c.654_655del ENSP00000426272.1:p.Ala219CysfsTer5
ENST00000510025.5:c.1368_1369del ENSP00000424940.1:p.Ala457CysfsTer5
ENST00000513628.5:c.1029_1030del ENSP00000425993.1:p.Ala344CysfsTer5
ENST00000515235.6:n.3193_3194del
ENST00000515320.5:c.1386_1387del ENSP00000424613.1:p.Ala463CysfsTer5
ENST00000518349.5:n.574_575del
ENST00000520244.5:n.223_224del
ENST00000522415.5:n.107_108del
NM_000414.3:c.1440_1441del NP_000405.1:p.Ala481CysfsTer5
NM_001199291.2:c.1515_1516del NP_001186220.1:p.Ala506CysfsTer5
NM_001199292.1:c.1386_1387del NP_001186221.1:p.Ala463CysfsTer5
NM_001292027.1:c.1368_1369del NP_001278956.1:p.Ala457CysfsTer5
NM_001292028.1:c.1020_1021del NP_001278957.1:p.Ala341CysfsTer5
NM_000414.4:c.1440_1441del MANE Select NP_000405.1:p.Ala481CysfsTer5
NM_001199291.3:c.1515_1516del NP_001186220.1:p.Ala506CysfsTer5
NM_001199292.2:c.1386_1387del NP_001186221.1:p.Ala463CysfsTer5
NM_001292027.2:c.1368_1369del NP_001278956.1:p.Ala457CysfsTer5
NM_001292028.2:c.1020_1021del NP_001278957.1:p.Ala341CysfsTer5
NM_001374497.1:c.1431_1432del NP_001361426.1:p.Ala478CysfsTer5
NM_001374498.1:c.1368_1369del NP_001361427.1:p.Ala457CysfsTer5
NM_001374499.1:c.1113_1114del NP_001361428.1:p.Ala372CysfsTer5
NM_001374500.1:c.999_1000del NP_001361429.1:p.Ala334CysfsTer5
NM_001374501.1:c.1029_1030del NP_001361430.1:p.Ala344CysfsTer5
NM_001374502.1:c.1029_1030del NP_001361431.1:p.Ala344CysfsTer5
NM_001374503.1:c.1029_1030del NP_001361432.1:p.Ala344CysfsTer5
NR_164653.1:n.1537_1538del
NR_164654.1:n.1805_1806del