Canonical Allele Identifier: CA2573138652
Community Standard Title: NM_000414.4(HSD17B4):c.1233dup (p.Glu412ArgfsTer4)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119502064dup , CM000667.2:g.119502064dup GRCh38
NC_000005.9:g.118837759dup , CM000667.1:g.118837759dup GRCh37
NC_000005.8:g.118865658dup NCBI36
NG_008182.1:g.54612dup

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1233dup MANE Select NP_000405.1:p.Glu412ArgfsTer4
ENST00000510025.7:c.1233dup MANE Select ENSP00000424940.3:p.Glu412ArgfsTer4
NM_000414.3:c.1233dup NP_000405.1:p.Glu412ArgfsTer4
NM_001199291.2:c.1308dup NP_001186220.1:p.Glu437ArgfsTer4
NM_001199291.3:c.1308dup NP_001186220.1:p.Glu437ArgfsTer4
NM_001199292.1:c.1179dup NP_001186221.1:p.Glu394ArgfsTer4
NM_001199292.2:c.1179dup NP_001186221.1:p.Glu394ArgfsTer4
NM_001292027.1:c.1161dup NP_001278956.1:p.Glu388ArgfsTer4
NM_001292027.2:c.1161dup NP_001278956.1:p.Glu388ArgfsTer4
NM_001292028.1:c.813dup NP_001278957.1:p.Glu272ArgfsTer4
NM_001292028.2:c.813dup NP_001278957.1:p.Glu272ArgfsTer4
NM_001374497.1:c.1224dup NP_001361426.1:p.Glu409ArgfsTer4
NM_001374498.1:c.1233dup NP_001361427.1:p.Glu412ArgfsTer4
NM_001374499.1:c.906dup NP_001361428.1:p.Glu303ArgfsTer4
NM_001374500.1:c.792dup NP_001361429.1:p.Glu265ArgfsTer4
NM_001374501.1:c.822dup NP_001361430.1:p.Glu275ArgfsTer4
NM_001374502.1:c.822dup NP_001361431.1:p.Glu275ArgfsTer4
NM_001374503.1:c.822dup NP_001361432.1:p.Glu275ArgfsTer4
NR_164653.1:n.1330dup
NR_164654.1:n.1598dup
ENST00000256216.10:c.1233dup ENSP00000256216.6:p.Glu412ArgfsTer4
ENST00000414835.6:c.813dup ENSP00000411960.2:p.Glu272ArgfsTer4
ENST00000414835.7:c.1308dup ENSP00000411960.3:p.Glu437ArgfsTer4
ENST00000442060.7:c.1233dup ENSP00000390208.3:p.Glu412ArgfsTer4
ENST00000504811.5:c.1308dup ENSP00000420914.1:p.Glu437ArgfsTer4
ENST00000509514.5:c.447dup ENSP00000426272.1:p.Glu150ArgfsTer4
ENST00000509514.6:c.1233dup ENSP00000426272.2:p.Glu412ArgfsTer4
ENST00000510025.5:c.1161dup ENSP00000424940.1:p.Glu388ArgfsTer4
ENST00000513628.5:c.822dup ENSP00000425993.1:p.Glu275ArgfsTer4
ENST00000515235.6:n.2986dup
ENST00000515320.5:c.1179dup ENSP00000424613.1:p.Glu394ArgfsTer4
ENST00000518349.5:n.367dup
ENST00000518349.6:c.477dup ENSP00000507185.1:p.Glu160ArgfsTer4
ENST00000520216.5:n.494dup
ENST00000520244.5:n.16dup
ENST00000643250.1:c.*1105dup ENSP00000494737.1:n.*1105dup
ENST00000644146.1:c.*2504dup ENSP00000494808.1:n.*2504dup
ENST00000645099.1:c.792dup ENSP00000496091.1:p.Glu265ArgfsTer4
ENST00000645702.1:c.*636dup ENSP00000496432.1:n.*636dup
ENST00000645832.1:c.*1118dup ENSP00000494316.1:n.*1118dup
ENST00000646058.1:c.1233dup ENSP00000493579.1:p.Glu412ArgfsTer4
ENST00000646355.1:c.*1239dup ENSP00000493801.1:n.*1239dup
ENST00000646554.1:c.*1211dup ENSP00000494542.1:n.*1211dup
ENST00000647335.1:c.*1200dup ENSP00000495180.1:n.*1200dup
ENST00000647342.1:c.*1164dup ENSP00000494992.1:n.*1164dup
ENST00000682445.1:c.*1114dup ENSP00000508061.1:n.*1114dup
ENST00000682531.1:n.3125dup
ENST00000682626.1:c.*739dup ENSP00000507857.1:n.*739dup
ENST00000682996.1:c.1233dup ENSP00000507792.1:p.Glu412ArgfsTer4
ENST00000683265.1:n.3019dup
ENST00000683371.1:c.*1363dup ENSP00000508376.1:n.*1363dup
ENST00000683372.1:n.3243dup
ENST00000683390.1:n.2923dup
ENST00000683549.1:n.2847dup
ENST00000683936.1:c.*2811dup ENSP00000507721.1:n.*2811dup
ENST00000683974.1:n.3008dup
ENST00000683996.1:c.*443dup ENSP00000507060.1:n.*443dup
ENST00000684131.1:n.2765dup
ENST00000684160.1:c.*923dup ENSP00000507821.1:n.*923dup
ENST00000684214.1:c.1233dup ENSP00000508071.1:p.Glu412ArgfsTer4