Canonical Allele Identifier: CA1577023990

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1748516144

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475707_119475708insCTC , CM000667.2:g.119475707_119475708insCTC	GRCh38
NC_000005.9:g.118811402_118811403insCTC , CM000667.1:g.118811402_118811403insCTC	GRCh37
NC_000005.8:g.118839301_118839302insCTC	NCBI36
NG_008182.1:g.28255_28256insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.282_283insCTC	ENSP00000426272.2:p.Asp94_Val95insLeu
ENST00000518349.6:c.112+19339_112+19340insCTC	ENSP00000507185.1:n.112+19339_112+19340insCTC
ENST00000682445.1:c.*163_*164insCTC	ENSP00000508061.1:n.*163_*164insCTC
ENST00000682531.1:n.383_384insCTC
ENST00000682626.1:c.357_358insCTC	ENSP00000507857.1:p.Asp119_Val120insLeu
ENST00000682996.1:c.282_283insCTC	ENSP00000507792.1:p.Asp94_Val95insLeu
ENST00000683265.1:n.375_376insCTC
ENST00000683371.1:c.*412_*413insCTC	ENSP00000508376.1:n.*412_*413insCTC
ENST00000683390.1:n.330_331insCTC
ENST00000683936.1:c.*167_*168insCTC	ENSP00000507721.1:n.*167_*168insCTC
ENST00000683974.1:n.364_365insCTC
ENST00000684160.1:c.357_358insCTC	ENSP00000507821.1:p.Asp119_Val120insLeu
ENST00000684214.1:c.282_283insCTC	ENSP00000508071.1:p.Asp94_Val95insLeu
ENST00000414835.7:c.357_358insCTC	ENSP00000411960.3:p.Asp119_Val120insLeu
ENST00000510025.7:c.282_283insCTC MANE Select	ENSP00000424940.3:p.Asp94_Val95insLeu
ENST00000643250.1:c.*163_*164insCTC	ENSP00000494737.1:n.*163_*164insCTC
ENST00000644146.1:c.282_283insCTC	ENSP00000494808.1:p.Asp94_Val95insLeu
ENST00000645832.1:c.*167_*168insCTC	ENSP00000494316.1:n.*167_*168insCTC
ENST00000646058.1:c.282_283insCTC	ENSP00000493579.1:p.Asp94_Val95insLeu
ENST00000646355.1:c.*288_*289insCTC	ENSP00000493801.1:n.*288_*289insCTC
ENST00000646554.1:c.*163_*164insCTC	ENSP00000494542.1:n.*163_*164insCTC
ENST00000646590.1:c.282_283insCTC	ENSP00000494892.1:p.Asp94_Val95insLeu
ENST00000647335.1:c.*249_*250insCTC	ENSP00000495180.1:n.*249_*250insCTC
ENST00000647342.1:c.*163_*164insCTC	ENSP00000494992.1:n.*163_*164insCTC
ENST00000256216.10:c.282_283insCTC	ENSP00000256216.6:p.Asp94_Val95insLeu
ENST00000414835.6:c.-130_-129insCTC	ENSP00000411960.2:n.-130_-129insCTC
ENST00000442060.7:c.282_283insCTC	ENSP00000390208.3:p.Asp94_Val95insLeu
ENST00000503168.5:n.271_272insCTC
ENST00000504811.5:c.357_358insCTC	ENSP00000420914.1:p.Asp119_Val120insLeu
ENST00000507695.1:n.254_255insCTC
ENST00000510025.5:c.210_211insCTC	ENSP00000424940.1:p.Asp70_Val71insLeu
ENST00000511186.5:n.413_414insCTC
ENST00000512841.5:n.330_331insCTC
ENST00000515235.6:n.342_343insCTC
ENST00000515320.5:c.228_229insCTC	ENSP00000424613.1:p.Asp76_Val77insLeu
NM_000414.3:c.282_283insCTC	NP_000405.1:p.Asp94_Val95insLeu
NM_001199291.2:c.357_358insCTC	NP_001186220.1:p.Asp119_Val120insLeu
NM_001199292.1:c.228_229insCTC	NP_001186221.1:p.Asp76_Val77insLeu
NM_001292027.1:c.210_211insCTC	NP_001278956.1:p.Asp70_Val71insLeu
NM_001292028.1:c.-130_-129insCTC	NP_001278957.1:n.-130_-129insCTC
NM_000414.4:c.282_283insCTC MANE Select	NP_000405.1:p.Asp94_Val95insLeu
NM_001199291.3:c.357_358insCTC	NP_001186220.1:p.Asp119_Val120insLeu
NM_001199292.2:c.228_229insCTC	NP_001186221.1:p.Asp76_Val77insLeu
NM_001292027.2:c.210_211insCTC	NP_001278956.1:p.Asp70_Val71insLeu
NM_001292028.2:c.-130_-129insCTC	NP_001278957.1:n.-130_-129insCTC
NM_001374497.1:c.282_283insCTC	NP_001361426.1:p.Asp94_Val95insLeu
NM_001374498.1:c.282_283insCTC	NP_001361427.1:p.Asp94_Val95insLeu
NM_001374499.1:c.2_3insCTC	NP_001361428.1:p.Met1delinsIleSer
NM_001374500.1:c.-257_-256insCTC	NP_001361429.1:n.-257_-256insCTC
NM_001374501.1:c.-130_-129insCTC	NP_001361430.1:n.-130_-129insCTC
NM_001374502.1:c.-130_-129insCTC	NP_001361431.1:n.-130_-129insCTC
NM_001374503.1:c.-130_-129insCTC	NP_001361432.1:n.-130_-129insCTC
NR_164653.1:n.361_362insCTC
NR_164654.1:n.549_550insCTC