Canonical Allele Identifier: CA2674978891

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119475894-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475897_119475898del , CM000667.2:g.119475897_119475898del	GRCh38
NC_000005.9:g.118811592_118811593del , CM000667.1:g.118811592_118811593del	GRCh37
NC_000005.8:g.118839491_118839492del	NCBI36
NG_008182.1:g.28445_28446del

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.349+27_349+28del	ENSP00000426272.2:n.349+27_349+28del
ENST00000518349.6:c.112+19529_112+19530del	ENSP00000507185.1:n.112+19529_112+19530de...
ENST00000682445.1:c.*230+27_*230+28del	ENSP00000508061.1:n.*230+27_*230+28del
ENST00000682531.1:n.450+27_450+28del
ENST00000682626.1:c.377+170_377+171del	ENSP00000507857.1:n.377+170_377+171del
ENST00000682996.1:c.349+27_349+28del	ENSP00000507792.1:n.349+27_349+28del
ENST00000683265.1:n.442+27_442+28del
ENST00000683371.1:c.*479+27_*479+28del	ENSP00000508376.1:n.*479+27_*479+28del
ENST00000683390.1:n.520_521del
ENST00000683936.1:c.*234+27_*234+28del	ENSP00000507721.1:n.*234+27_*234+28del
ENST00000683974.1:n.431+27_431+28del
ENST00000684160.1:c.424+27_424+28del	ENSP00000507821.1:n.424+27_424+28del
ENST00000684214.1:c.349+27_349+28del	ENSP00000508071.1:n.349+27_349+28del
ENST00000414835.7:c.424+27_424+28del	ENSP00000411960.3:n.424+27_424+28del
ENST00000510025.7:c.349+27_349+28del MANE Select	ENSP00000424940.3:n.349+27_349+28del
ENST00000643250.1:c.*230+27_*230+28del	ENSP00000494737.1:n.*230+27_*230+28del
ENST00000644146.1:c.349+27_349+28del	ENSP00000494808.1:n.349+27_349+28del
ENST00000645832.1:c.*234+27_*234+28del	ENSP00000494316.1:n.*234+27_*234+28del
ENST00000646058.1:c.349+27_349+28del	ENSP00000493579.1:n.349+27_349+28del
ENST00000646355.1:c.*355+27_*355+28del	ENSP00000493801.1:n.*355+27_*355+28del
ENST00000646554.1:c.*230+27_*230+28del	ENSP00000494542.1:n.*230+27_*230+28del
ENST00000646590.1:c.349+27_349+28del	ENSP00000494892.1:n.349+27_349+28del
ENST00000647335.1:c.*316+27_*316+28del	ENSP00000495180.1:n.*316+27_*316+28del
ENST00000647342.1:c.*230+27_*230+28del	ENSP00000494992.1:n.*230+27_*230+28del
ENST00000256216.10:c.349+27_349+28del	ENSP00000256216.6:n.349+27_349+28del
ENST00000414835.6:c.-63+27_-63+28del	ENSP00000411960.2:n.-63+27_-63+28del
ENST00000442060.7:c.349+27_349+28del	ENSP00000390208.3:n.349+27_349+28del
ENST00000503168.5:n.338+27_338+28del
ENST00000504811.5:c.424+27_424+28del	ENSP00000420914.1:n.424+27_424+28del
ENST00000510025.5:c.277+27_277+28del	ENSP00000424940.1:n.277+27_277+28del
ENST00000511186.5:n.480+27_480+28del
ENST00000512841.5:n.397+27_397+28del
ENST00000515235.6:n.409+27_409+28del
ENST00000515320.5:c.295+27_295+28del	ENSP00000424613.1:n.295+27_295+28del
NM_000414.3:c.349+27_349+28del	NP_000405.1:n.349+27_349+28del
NM_001199291.2:c.424+27_424+28del	NP_001186220.1:n.424+27_424+28del
NM_001199292.1:c.295+27_295+28del	NP_001186221.1:n.295+27_295+28del
NM_001292027.1:c.277+27_277+28del	NP_001278956.1:n.277+27_277+28del
NM_001292028.1:c.-63+27_-63+28del	NP_001278957.1:n.-63+27_-63+28del
NM_000414.4:c.349+27_349+28del MANE Select	NP_000405.1:n.349+27_349+28del
NM_001199291.3:c.424+27_424+28del	NP_001186220.1:n.424+27_424+28del
NM_001199292.2:c.295+27_295+28del	NP_001186221.1:n.295+27_295+28del
NM_001292027.2:c.277+27_277+28del	NP_001278956.1:n.277+27_277+28del
NM_001292028.2:c.-63+27_-63+28del	NP_001278957.1:n.-63+27_-63+28del
NM_001374497.1:c.349+27_349+28del	NP_001361426.1:n.349+27_349+28del
NM_001374498.1:c.349+27_349+28del	NP_001361427.1:n.349+27_349+28del
NM_001374499.1:c.22+170_22+171del	NP_001361428.1:n.22+170_22+171del
NM_001374500.1:c.-190+27_-190+28del	NP_001361429.1:n.-190+27_-190+28del
NM_001374501.1:c.-63+27_-63+28del	NP_001361430.1:n.-63+27_-63+28del
NM_001374502.1:c.-63+27_-63+28del	NP_001361431.1:n.-63+27_-63+28del
NM_001374503.1:c.-63+27_-63+28del	NP_001361432.1:n.-63+27_-63+28del
NR_164653.1:n.428+27_428+28del
NR_164654.1:n.616+27_616+28del