Canonical Allele Identifier: CA2580072401

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1724206
• ClinVar RCV Id: RCV002306761

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489194_119489200del , CM000667.2:g.119489194_119489200del	GRCh38
NC_000005.9:g.118824889_118824895del , CM000667.1:g.118824889_118824895del	GRCh37
NC_000005.8:g.118852788_118852794del	NCBI36
NG_008182.1:g.41742_41748del

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.625_631del	ENSP00000426272.2:p.Leu209LysfsTer3
ENST00000518349.6:c.113-7349_113-7343del	ENSP00000507185.1:n.113-7349_113-7343del
ENST00000682445.1:c.*506_*512del	ENSP00000508061.1:n.*506_*512del
ENST00000682531.1:n.726_732del
ENST00000682626.1:c.*131_*137del	ENSP00000507857.1:n.*131_*137del
ENST00000682996.1:c.625_631del	ENSP00000507792.1:p.Leu209LysfsTer3
ENST00000683265.1:n.718_724del
ENST00000683371.1:c.*755_*761del	ENSP00000508376.1:n.*755_*761del
ENST00000683390.1:n.2315_2321del
ENST00000683549.1:n.546_552del
ENST00000683936.1:c.*510_*516del	ENSP00000507721.1:n.*510_*516del
ENST00000683974.1:n.707_713del
ENST00000683996.1:c.214_220del	ENSP00000507060.1:p.Leu72LysfsTer3
ENST00000684131.1:n.464_470del
ENST00000684160.1:c.*315_*321del	ENSP00000507821.1:n.*315_*321del
ENST00000684214.1:c.625_631del	ENSP00000508071.1:p.Leu209LysfsTer3
ENST00000414835.7:c.700_706del	ENSP00000411960.3:p.Leu234LysfsTer3
ENST00000510025.7:c.625_631del MANE Select	ENSP00000424940.3:p.Leu209LysfsTer3
ENST00000643250.1:c.*497_*503del	ENSP00000494737.1:n.*497_*503del
ENST00000644146.1:c.*203_*209del	ENSP00000494808.1:n.*203_*209del
ENST00000645099.1:c.184_190del	ENSP00000496091.1:p.Leu62LysfsTer3
ENST00000645702.1:c.*28_*34del	ENSP00000496432.1:n.*28_*34del
ENST00000645832.1:c.*510_*516del	ENSP00000494316.1:n.*510_*516del
ENST00000646058.1:c.625_631del	ENSP00000493579.1:p.Leu209LysfsTer3
ENST00000646355.1:c.*631_*637del	ENSP00000493801.1:n.*631_*637del
ENST00000646554.1:c.*603_*609del	ENSP00000494542.1:n.*603_*609del
ENST00000647335.1:c.*592_*598del	ENSP00000495180.1:n.*592_*598del
ENST00000647342.1:c.*556_*562del	ENSP00000494992.1:n.*556_*562del
ENST00000256216.10:c.625_631del	ENSP00000256216.6:p.Leu209LysfsTer3
ENST00000414835.6:c.205_211del	ENSP00000411960.2:p.Leu69LysfsTer3
ENST00000442060.7:c.625_631del	ENSP00000390208.3:p.Leu209LysfsTer3
ENST00000504811.5:c.700_706del	ENSP00000420914.1:p.Leu234LysfsTer3
ENST00000505181.5:n.328_334del
ENST00000509514.5:c.-260_-254del	ENSP00000426272.1:n.-260_-254del
ENST00000510025.5:c.553_559del	ENSP00000424940.1:p.Leu185LysfsTer3
ENST00000512644.1:n.193_199del
ENST00000513628.5:c.214_220del	ENSP00000425993.1:p.Leu72LysfsTer3
ENST00000515235.6:n.685_691del
ENST00000515320.5:c.571_577del	ENSP00000424613.1:p.Leu191LysfsTer3
NM_000414.3:c.625_631del	NP_000405.1:p.Leu209LysfsTer3
NM_001199291.2:c.700_706del	NP_001186220.1:p.Leu234LysfsTer3
NM_001199292.1:c.571_577del	NP_001186221.1:p.Leu191LysfsTer3
NM_001292027.1:c.553_559del	NP_001278956.1:p.Leu185LysfsTer3
NM_001292028.1:c.205_211del	NP_001278957.1:p.Leu69LysfsTer3
NM_000414.4:c.625_631del MANE Select	NP_000405.1:p.Leu209LysfsTer3
NM_001199291.3:c.700_706del	NP_001186220.1:p.Leu234LysfsTer3
NM_001199292.2:c.571_577del	NP_001186221.1:p.Leu191LysfsTer3
NM_001292027.2:c.553_559del	NP_001278956.1:p.Leu185LysfsTer3
NM_001292028.2:c.205_211del	NP_001278957.1:p.Leu69LysfsTer3
NM_001374497.1:c.616_622del	NP_001361426.1:p.Leu206LysfsTer3
NM_001374498.1:c.625_631del	NP_001361427.1:p.Leu209LysfsTer3
NM_001374499.1:c.298_304del	NP_001361428.1:p.Leu100LysfsTer3
NM_001374500.1:c.184_190del	NP_001361429.1:p.Leu62LysfsTer3
NM_001374501.1:c.214_220del	NP_001361430.1:p.Leu72LysfsTer3
NM_001374502.1:c.214_220del	NP_001361431.1:p.Leu72LysfsTer3
NM_001374503.1:c.214_220del	NP_001361432.1:p.Leu72LysfsTer3
NR_164653.1:n.704_710del
NR_164654.1:n.892_898del