Canonical Allele Identifier: CA2578387456

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478904_119478905insA , CM000667.2:g.119478904_119478905insA	GRCh38
NC_000005.9:g.118814599_118814600insA , CM000667.1:g.118814599_118814600insA	GRCh37
NC_000005.8:g.118842498_118842499insA	NCBI36
NG_008182.1:g.31452_31453insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.505_506insA	ENSP00000426272.2:p.Leu169TyrfsTer13
ENST00000518349.6:c.113-17639_113-17638insA	ENSP00000507185.1:n.113-17639_113-17638insA
ENST00000682445.1:c.*386_*387insA	ENSP00000508061.1:n.*386_*387insA
ENST00000682531.1:n.606_607insA
ENST00000682626.1:c.*11_*12insA	ENSP00000507857.1:n.*11_*12insA
ENST00000682996.1:c.505_506insA	ENSP00000507792.1:p.Leu169TyrfsTer13
ENST00000683265.1:n.598_599insA
ENST00000683371.1:c.*635_*636insA	ENSP00000508376.1:n.*635_*636insA
ENST00000683390.1:n.2195_2196insA
ENST00000683549.1:n.426_427insA
ENST00000683936.1:c.*390_*391insA	ENSP00000507721.1:n.*390_*391insA
ENST00000683974.1:n.587_588insA
ENST00000683996.1:c.94_95insA	ENSP00000507060.1:p.Leu32TyrfsTer13
ENST00000684131.1:n.344_345insA
ENST00000684160.1:c.*195_*196insA	ENSP00000507821.1:n.*195_*196insA
ENST00000684214.1:c.505_506insA	ENSP00000508071.1:p.Leu169TyrfsTer13
ENST00000414835.7:c.580_581insA	ENSP00000411960.3:p.Leu194TyrfsTer13
ENST00000510025.7:c.505_506insA MANE Select	ENSP00000424940.3:p.Leu169TyrfsTer13
ENST00000643250.1:c.*377_*378insA	ENSP00000494737.1:n.*377_*378insA
ENST00000644146.1:c.*83_*84insA	ENSP00000494808.1:n.*83_*84insA
ENST00000645099.1:c.64_65insA	ENSP00000496091.1:p.Leu22TyrfsTer13
ENST00000645702.1:c.94_95insA	ENSP00000496432.1:p.Leu32TyrfsTer13
ENST00000645832.1:c.*390_*391insA	ENSP00000494316.1:n.*390_*391insA
ENST00000646058.1:c.505_506insA	ENSP00000493579.1:p.Leu169TyrfsTer13
ENST00000646355.1:c.*511_*512insA	ENSP00000493801.1:n.*511_*512insA
ENST00000646554.1:c.*483_*484insA	ENSP00000494542.1:n.*483_*484insA
ENST00000646590.1:c.496_497insA	ENSP00000494892.1:p.Leu166TyrfsTer?
ENST00000647335.1:c.*472_*473insA	ENSP00000495180.1:n.*472_*473insA
ENST00000647342.1:c.*436_*437insA	ENSP00000494992.1:n.*436_*437insA
ENST00000256216.10:c.505_506insA	ENSP00000256216.6:p.Leu169TyrfsTer13
ENST00000414835.6:c.85_86insA	ENSP00000411960.2:p.Leu29TyrfsTer13
ENST00000442060.7:c.505_506insA	ENSP00000390208.3:p.Leu169TyrfsTer13
ENST00000503168.5:n.494_495insA
ENST00000504811.5:c.580_581insA	ENSP00000420914.1:p.Leu194TyrfsTer13
ENST00000505181.5:n.208_209insA
ENST00000508788.5:n.407_408insA
ENST00000509514.5:c.-380_-379insA	ENSP00000426272.1:n.-380_-379insA
ENST00000510025.5:c.433_434insA	ENSP00000424940.1:p.Leu145TyrfsTer13
ENST00000512644.1:n.73_74insA
ENST00000512841.5:n.553_554insA
ENST00000513628.5:c.94_95insA	ENSP00000425993.1:p.Leu32TyrfsTer13
ENST00000515235.6:n.565_566insA
ENST00000515320.5:c.451_452insA	ENSP00000424613.1:p.Leu151TyrfsTer13
NM_000414.3:c.505_506insA	NP_000405.1:p.Leu169TyrfsTer13
NM_001199291.2:c.580_581insA	NP_001186220.1:p.Leu194TyrfsTer13
NM_001199292.1:c.451_452insA	NP_001186221.1:p.Leu151TyrfsTer13
NM_001292027.1:c.433_434insA	NP_001278956.1:p.Leu145TyrfsTer13
NM_001292028.1:c.85_86insA	NP_001278957.1:p.Leu29TyrfsTer13
NM_000414.4:c.505_506insA MANE Select	NP_000405.1:p.Leu169TyrfsTer13
NM_001199291.3:c.580_581insA	NP_001186220.1:p.Leu194TyrfsTer13
NM_001199292.2:c.451_452insA	NP_001186221.1:p.Leu151TyrfsTer13
NM_001292027.2:c.433_434insA	NP_001278956.1:p.Leu145TyrfsTer13
NM_001292028.2:c.85_86insA	NP_001278957.1:p.Leu29TyrfsTer13
NM_001374497.1:c.496_497insA	NP_001361426.1:p.Leu166TyrfsTer13
NM_001374498.1:c.505_506insA	NP_001361427.1:p.Leu169TyrfsTer13
NM_001374499.1:c.178_179insA	NP_001361428.1:p.Leu60TyrfsTer13
NM_001374500.1:c.64_65insA	NP_001361429.1:p.Leu22TyrfsTer13
NM_001374501.1:c.94_95insA	NP_001361430.1:p.Leu32TyrfsTer13
NM_001374502.1:c.94_95insA	NP_001361431.1:p.Leu32TyrfsTer13
NM_001374503.1:c.94_95insA	NP_001361432.1:p.Leu32TyrfsTer13
NR_164653.1:n.584_585insA
NR_164654.1:n.772_773insA