Canonical Allele Identifier: CA1577024007
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1748519960

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119475731_119475732del , CM000667.2:g.119475731_119475732del GRCh38
NC_000005.9:g.118811426_118811427del , CM000667.1:g.118811426_118811427del GRCh37
NC_000005.8:g.118839325_118839326del NCBI36
NG_008182.1:g.28279_28280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.302+4_302+5del ENSP00000426272.2:n.302+4_302+5del
ENST00000518349.6:c.112+19363_112+19364del ENSP00000507185.1:n.112+19363_112+19364del
ENST00000682445.1:c.*183+4_*183+5del ENSP00000508061.1:n.*183+4_*183+5del
ENST00000682531.1:n.403+4_403+5del
ENST00000682626.1:c.377+4_377+5del ENSP00000507857.1:n.377+4_377+5del
ENST00000682996.1:c.302+4_302+5del ENSP00000507792.1:n.302+4_302+5del
ENST00000683265.1:n.395+4_395+5del
ENST00000683371.1:c.*432+4_*432+5del ENSP00000508376.1:n.*432+4_*432+5del
ENST00000683390.1:n.354_355del
ENST00000683936.1:c.*187+4_*187+5del ENSP00000507721.1:n.*187+4_*187+5del
ENST00000683974.1:n.384+4_384+5del
ENST00000684160.1:c.377+4_377+5del ENSP00000507821.1:n.377+4_377+5del
ENST00000684214.1:c.302+4_302+5del ENSP00000508071.1:n.302+4_302+5del
ENST00000414835.7:c.377+4_377+5del ENSP00000411960.3:n.377+4_377+5del
ENST00000510025.7:c.302+4_302+5del MANE Select ENSP00000424940.3:n.302+4_302+5del
ENST00000643250.1:c.*183+4_*183+5del ENSP00000494737.1:n.*183+4_*183+5del
ENST00000644146.1:c.302+4_302+5del ENSP00000494808.1:n.302+4_302+5del
ENST00000645832.1:c.*187+4_*187+5del ENSP00000494316.1:n.*187+4_*187+5del
ENST00000646058.1:c.302+4_302+5del ENSP00000493579.1:n.302+4_302+5del
ENST00000646355.1:c.*308+4_*308+5del ENSP00000493801.1:n.*308+4_*308+5del
ENST00000646554.1:c.*183+4_*183+5del ENSP00000494542.1:n.*183+4_*183+5del
ENST00000646590.1:c.302+4_302+5del ENSP00000494892.1:n.302+4_302+5del
ENST00000647335.1:c.*269+4_*269+5del ENSP00000495180.1:n.*269+4_*269+5del
ENST00000647342.1:c.*183+4_*183+5del ENSP00000494992.1:n.*183+4_*183+5del
ENST00000256216.10:c.302+4_302+5del ENSP00000256216.6:n.302+4_302+5del
ENST00000414835.6:c.-110+4_-110+5del ENSP00000411960.2:n.-110+4_-110+5del
ENST00000442060.7:c.302+4_302+5del ENSP00000390208.3:n.302+4_302+5del
ENST00000503168.5:n.291+4_291+5del
ENST00000504811.5:c.377+4_377+5del ENSP00000420914.1:n.377+4_377+5del
ENST00000507695.1:n.274+4_274+5del
ENST00000510025.5:c.230+4_230+5del ENSP00000424940.1:n.230+4_230+5del
ENST00000511186.5:n.433+4_433+5del
ENST00000512841.5:n.350+4_350+5del
ENST00000515235.6:n.362+4_362+5del
ENST00000515320.5:c.248+4_248+5del ENSP00000424613.1:n.248+4_248+5del
NM_000414.3:c.302+4_302+5del NP_000405.1:n.302+4_302+5del
NM_001199291.2:c.377+4_377+5del NP_001186220.1:n.377+4_377+5del
NM_001199292.1:c.248+4_248+5del NP_001186221.1:n.248+4_248+5del
NM_001292027.1:c.230+4_230+5del NP_001278956.1:n.230+4_230+5del
NM_001292028.1:c.-110+4_-110+5del NP_001278957.1:n.-110+4_-110+5del
NM_000414.4:c.302+4_302+5del MANE Select NP_000405.1:n.302+4_302+5del
NM_001199291.3:c.377+4_377+5del NP_001186220.1:n.377+4_377+5del
NM_001199292.2:c.248+4_248+5del NP_001186221.1:n.248+4_248+5del
NM_001292027.2:c.230+4_230+5del NP_001278956.1:n.230+4_230+5del
NM_001292028.2:c.-110+4_-110+5del NP_001278957.1:n.-110+4_-110+5del
NM_001374497.1:c.302+4_302+5del NP_001361426.1:n.302+4_302+5del
NM_001374498.1:c.302+4_302+5del NP_001361427.1:n.302+4_302+5del
NM_001374499.1:c.22+4_22+5del NP_001361428.1:n.22+4_22+5del
NM_001374500.1:c.-237+4_-237+5del NP_001361429.1:n.-237+4_-237+5del
NM_001374501.1:c.-110+4_-110+5del NP_001361430.1:n.-110+4_-110+5del
NM_001374502.1:c.-110+4_-110+5del NP_001361431.1:n.-110+4_-110+5del
NM_001374503.1:c.-110+4_-110+5del NP_001361432.1:n.-110+4_-110+5del
NR_164653.1:n.381+4_381+5del
NR_164654.1:n.569+4_569+5del