Canonical Allele Identifier: CA2578387188

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452614_119452616dup , CM000667.2:g.119452614_119452616dup	GRCh38
NC_000005.9:g.118788309_118788311dup , CM000667.1:g.118788309_118788311dup	GRCh37
NC_000005.8:g.118816208_118816210dup	NCBI36
NG_008182.1:g.5162_5164dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.39_41dup	ENSP00000426272.2:p.Val14_Thr15insVal
ENST00000512841.6:n.80_82dup
ENST00000518349.6:c.39_41dup	ENSP00000507185.1:p.Val14_Thr15insVal
ENST00000682445.1:c.39_41dup	ENSP00000508061.1:p.Val14_Thr15insVal
ENST00000682996.1:c.39_41dup	ENSP00000507792.1:p.Val14_Thr15insVal
ENST00000683371.1:c.39_41dup	ENSP00000508376.1:p.Val14_Thr15insVal
ENST00000683390.1:n.87_89dup
ENST00000683936.1:c.39_41dup	ENSP00000507721.1:p.Val14_Thr15insVal
ENST00000683974.1:n.121_123dup
ENST00000684214.1:c.39_41dup	ENSP00000508071.1:p.Val14_Thr15insVal
ENST00000414835.7:c.-140_-138dup	ENSP00000411960.3:n.-140_-138dup
ENST00000510025.7:c.39_41dup MANE Select	ENSP00000424940.3:p.Val14_Thr15insVal
ENST00000644146.1:c.39_41dup	ENSP00000494808.1:p.Val14_Thr15insVal
ENST00000645832.1:c.39_41dup	ENSP00000494316.1:p.Val14_Thr15insVal
ENST00000646058.1:c.39_41dup	ENSP00000493579.1:p.Val14_Thr15insVal
ENST00000646590.1:c.39_41dup	ENSP00000494892.1:p.Val14_Thr15insVal
ENST00000256216.10:c.39_41dup	ENSP00000256216.6:p.Val14_Thr15insVal
ENST00000442060.7:c.39_41dup	ENSP00000390208.3:p.Val14_Thr15insVal
ENST00000504811.5:c.-140_-138dup	ENSP00000420914.1:n.-140_-138dup
ENST00000510025.5:c.-99_-97dup	ENSP00000424940.1:n.-99_-97dup
ENST00000511186.5:n.142_144dup
ENST00000515235.6:n.99_101dup
ENST00000515320.5:c.39_41dup	ENSP00000424613.1:p.Val14_Thr15insVal
ENST00000519184.5:n.50_52dup
NM_000414.3:c.39_41dup	NP_000405.1:p.Val14_Thr15insVal
NM_001199291.2:c.-140_-138dup	NP_001186220.1:n.-140_-138dup
NM_001199292.1:c.39_41dup	NP_001186221.1:p.Val14_Thr15insVal
NM_001292027.1:c.-99_-97dup	NP_001278956.1:n.-99_-97dup
NM_001292028.1:c.-561_-559dup	NP_001278957.1:n.-561_-559dup
NM_000414.4:c.39_41dup MANE Select	NP_000405.1:p.Val14_Thr15insVal
NM_001199291.3:c.-140_-138dup	NP_001186220.1:n.-140_-138dup
NM_001199292.2:c.39_41dup	NP_001186221.1:p.Val14_Thr15insVal
NM_001292027.2:c.-99_-97dup	NP_001278956.1:n.-99_-97dup
NM_001292028.2:c.-561_-559dup	NP_001278957.1:n.-561_-559dup
NM_001374497.1:c.39_41dup	NP_001361426.1:p.Val14_Thr15insVal
NM_001374498.1:c.39_41dup	NP_001361427.1:p.Val14_Thr15insVal
NM_001374499.1:c.-495_-493dup	NP_001361428.1:n.-495_-493dup
NM_001374500.1:c.-688_-686dup	NP_001361429.1:n.-688_-686dup
NM_001374501.1:c.-561_-559dup	NP_001361430.1:n.-561_-559dup
NM_001374502.1:c.-566_-564dup	NP_001361431.1:n.-566_-564dup
NM_001374503.1:c.-631_-629dup	NP_001361432.1:n.-631_-629dup
NR_164653.1:n.118_120dup
NR_164654.1:n.118_120dup