Canonical Allele Identifier: CA2578387457

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478908_119478913del , CM000667.2:g.119478908_119478913del	GRCh38
NC_000005.9:g.118814603_118814608del , CM000667.1:g.118814603_118814608del	GRCh37
NC_000005.8:g.118842502_118842507del	NCBI36
NG_008182.1:g.31456_31461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.509_514del	ENSP00000426272.2:p.Gly170_Leu172delinsVa...
ENST00000518349.6:c.113-17635_113-17630del	ENSP00000507185.1:n.113-17635_113-17630de...
ENST00000682445.1:c.*390_*395del	ENSP00000508061.1:n.*390_*395del
ENST00000682531.1:n.610_615del
ENST00000682626.1:c.*15_*20del	ENSP00000507857.1:n.*15_*20del
ENST00000682996.1:c.509_514del	ENSP00000507792.1:p.Gly170_Leu172delinsVa...
ENST00000683265.1:n.602_607del
ENST00000683371.1:c.*639_*644del	ENSP00000508376.1:n.*639_*644del
ENST00000683390.1:n.2199_2204del
ENST00000683549.1:n.430_435del
ENST00000683936.1:c.*394_*399del	ENSP00000507721.1:n.*394_*399del
ENST00000683974.1:n.591_596del
ENST00000683996.1:c.98_103del	ENSP00000507060.1:p.Gly33_Leu35delinsVal
ENST00000684131.1:n.348_353del
ENST00000684160.1:c.*199_*204del	ENSP00000507821.1:n.*199_*204del
ENST00000684214.1:c.509_514del	ENSP00000508071.1:p.Gly170_Leu172delinsVa...
ENST00000414835.7:c.584_589del	ENSP00000411960.3:p.Gly195_Leu197delinsVa...
ENST00000510025.7:c.509_514del MANE Select	ENSP00000424940.3:p.Gly170_Leu172delinsVa...
ENST00000643250.1:c.*381_*386del	ENSP00000494737.1:n.*381_*386del
ENST00000644146.1:c.*87_*92del	ENSP00000494808.1:n.*87_*92del
ENST00000645099.1:c.68_73del	ENSP00000496091.1:p.Gly23_Leu25delinsVal
ENST00000645702.1:c.98_103del	ENSP00000496432.1:p.Gly33_Leu35delinsVal
ENST00000645832.1:c.*394_*399del	ENSP00000494316.1:n.*394_*399del
ENST00000646058.1:c.509_514del	ENSP00000493579.1:p.Gly170_Leu172delinsVa...
ENST00000646355.1:c.*515_*520del	ENSP00000493801.1:n.*515_*520del
ENST00000646554.1:c.*487_*492del	ENSP00000494542.1:n.*487_*492del
ENST00000647335.1:c.*476_*481del	ENSP00000495180.1:n.*476_*481del
ENST00000647342.1:c.*440_*445del	ENSP00000494992.1:n.*440_*445del
ENST00000256216.10:c.509_514del	ENSP00000256216.6:p.Gly170_Leu172delinsVa...
ENST00000414835.6:c.89_94del	ENSP00000411960.2:p.Gly30_Leu32delinsVal
ENST00000442060.7:c.509_514del	ENSP00000390208.3:p.Gly170_Leu172delinsVa...
ENST00000503168.5:n.498_503del
ENST00000504811.5:c.584_589del	ENSP00000420914.1:p.Gly195_Leu197delinsVa...
ENST00000505181.5:n.212_217del
ENST00000508788.5:n.411_416del
ENST00000509514.5:c.-376_-371del	ENSP00000426272.1:n.-376_-371del
ENST00000510025.5:c.437_442del	ENSP00000424940.1:p.Gly146_Leu148delinsVa...
ENST00000512644.1:n.77_82del
ENST00000512841.5:n.557_562del
ENST00000513628.5:c.98_103del	ENSP00000425993.1:p.Gly33_Leu35delinsVal
ENST00000515235.6:n.569_574del
ENST00000515320.5:c.455_460del	ENSP00000424613.1:p.Gly152_Leu154delinsVa...
NM_000414.3:c.509_514del	NP_000405.1:p.Gly170_Leu172delinsVal
NM_001199291.2:c.584_589del	NP_001186220.1:p.Gly195_Leu197delinsVal
NM_001199292.1:c.455_460del	NP_001186221.1:p.Gly152_Leu154delinsVal
NM_001292027.1:c.437_442del	NP_001278956.1:p.Gly146_Leu148delinsVal
NM_001292028.1:c.89_94del	NP_001278957.1:p.Gly30_Leu32delinsVal
NM_000414.4:c.509_514del MANE Select	NP_000405.1:p.Gly170_Leu172delinsVal
NM_001199291.3:c.584_589del	NP_001186220.1:p.Gly195_Leu197delinsVal
NM_001199292.2:c.455_460del	NP_001186221.1:p.Gly152_Leu154delinsVal
NM_001292027.2:c.437_442del	NP_001278956.1:p.Gly146_Leu148delinsVal
NM_001292028.2:c.89_94del	NP_001278957.1:p.Gly30_Leu32delinsVal
NM_001374497.1:c.500_505del	NP_001361426.1:p.Gly167_Leu169delinsVal
NM_001374498.1:c.509_514del	NP_001361427.1:p.Gly170_Leu172delinsVal
NM_001374499.1:c.182_187del	NP_001361428.1:p.Gly61_Leu63delinsVal
NM_001374500.1:c.68_73del	NP_001361429.1:p.Gly23_Leu25delinsVal
NM_001374501.1:c.98_103del	NP_001361430.1:p.Gly33_Leu35delinsVal
NM_001374502.1:c.98_103del	NP_001361431.1:p.Gly33_Leu35delinsVal
NM_001374503.1:c.98_103del	NP_001361432.1:p.Gly33_Leu35delinsVal
NR_164653.1:n.588_593del
NR_164654.1:n.776_781del