Canonical Allele Identifier: CA2674979945

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478821-ATTTTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478826_119478831del , CM000667.2:g.119478826_119478831del	GRCh38
NC_000005.9:g.118814521_118814526del , CM000667.1:g.118814521_118814526del	GRCh37
NC_000005.8:g.118842420_118842425del	NCBI36
NG_008182.1:g.31374_31379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.435-8_435-3del	ENSP00000426272.2:n.435-8_435-3del
ENST00000518349.6:c.113-17717_113-17712del	ENSP00000507185.1:n.113-17717_113-17712del
ENST00000682445.1:c.*316-8_*316-3del	ENSP00000508061.1:n.*316-8_*316-3del
ENST00000682531.1:n.536-8_536-3del
ENST00000682626.1:c.463-8_463-3del	ENSP00000507857.1:n.463-8_463-3del
ENST00000682996.1:c.435-8_435-3del	ENSP00000507792.1:n.435-8_435-3del
ENST00000683265.1:n.528-8_528-3del
ENST00000683371.1:c.*565-8_*565-3del	ENSP00000508376.1:n.*565-8_*565-3del
ENST00000683390.1:n.2125-8_2125-3del
ENST00000683549.1:n.356-8_356-3del
ENST00000683936.1:c.*320-8_*320-3del	ENSP00000507721.1:n.*320-8_*320-3del
ENST00000683974.1:n.517-8_517-3del
ENST00000683996.1:c.24-8_24-3del	ENSP00000507060.1:n.24-8_24-3del
ENST00000684131.1:n.274-8_274-3del
ENST00000684160.1:c.*125-8_*125-3del	ENSP00000507821.1:n.*125-8_*125-3del
ENST00000684214.1:c.435-8_435-3del	ENSP00000508071.1:n.435-8_435-3del
ENST00000414835.7:c.510-8_510-3del	ENSP00000411960.3:n.510-8_510-3del
ENST00000510025.7:c.435-8_435-3del MANE Select	ENSP00000424940.3:n.435-8_435-3del
ENST00000643250.1:c.*307-8_*307-3del	ENSP00000494737.1:n.*307-8_*307-3del
ENST00000644146.1:c.*13-8_*13-3del	ENSP00000494808.1:n.*13-8_*13-3del
ENST00000645099.1:c.-7-8_-7-3del	ENSP00000496091.1:n.-7-8_-7-3del
ENST00000645702.1:c.24-8_24-3del	ENSP00000496432.1:n.24-8_24-3del
ENST00000645832.1:c.*320-8_*320-3del	ENSP00000494316.1:n.*320-8_*320-3del
ENST00000646058.1:c.435-8_435-3del	ENSP00000493579.1:n.435-8_435-3del
ENST00000646355.1:c.*441-8_*441-3del	ENSP00000493801.1:n.*441-8_*441-3del
ENST00000646554.1:c.*413-8_*413-3del	ENSP00000494542.1:n.*413-8_*413-3del
ENST00000646590.1:c.426-8_426-3del	ENSP00000494892.1:n.426-8_426-3del
ENST00000647335.1:c.*402-8_*402-3del	ENSP00000495180.1:n.*402-8_*402-3del
ENST00000647342.1:c.*366-8_*366-3del	ENSP00000494992.1:n.*366-8_*366-3del
ENST00000256216.10:c.435-8_435-3del	ENSP00000256216.6:n.435-8_435-3del
ENST00000414835.6:c.15-8_15-3del	ENSP00000411960.2:n.15-8_15-3del
ENST00000442060.7:c.435-8_435-3del	ENSP00000390208.3:n.435-8_435-3del
ENST00000503168.5:n.424-8_424-3del
ENST00000504811.5:c.510-8_510-3del	ENSP00000420914.1:n.510-8_510-3del
ENST00000505181.5:n.138-8_138-3del
ENST00000508788.5:n.337-8_337-3del
ENST00000509514.5:c.-450-8_-450-3del	ENSP00000426272.1:n.-450-8_-450-3del
ENST00000510025.5:c.363-8_363-3del	ENSP00000424940.1:n.363-8_363-3del
ENST00000512841.5:n.483-8_483-3del
ENST00000513628.5:c.24-8_24-3del	ENSP00000425993.1:n.24-8_24-3del
ENST00000515235.6:n.495-8_495-3del
ENST00000515320.5:c.381-8_381-3del	ENSP00000424613.1:n.381-8_381-3del
NM_000414.3:c.435-8_435-3del	NP_000405.1:n.435-8_435-3del
NM_001199291.2:c.510-8_510-3del	NP_001186220.1:n.510-8_510-3del
NM_001199292.1:c.381-8_381-3del	NP_001186221.1:n.381-8_381-3del
NM_001292027.1:c.363-8_363-3del	NP_001278956.1:n.363-8_363-3del
NM_001292028.1:c.15-8_15-3del	NP_001278957.1:n.15-8_15-3del
NM_000414.4:c.435-8_435-3del MANE Select	NP_000405.1:n.435-8_435-3del
NM_001199291.3:c.510-8_510-3del	NP_001186220.1:n.510-8_510-3del
NM_001199292.2:c.381-8_381-3del	NP_001186221.1:n.381-8_381-3del
NM_001292027.2:c.363-8_363-3del	NP_001278956.1:n.363-8_363-3del
NM_001292028.2:c.15-8_15-3del	NP_001278957.1:n.15-8_15-3del
NM_001374497.1:c.426-8_426-3del	NP_001361426.1:n.426-8_426-3del
NM_001374498.1:c.435-8_435-3del	NP_001361427.1:n.435-8_435-3del
NM_001374499.1:c.108-8_108-3del	NP_001361428.1:n.108-8_108-3del
NM_001374500.1:c.-7-8_-7-3del	NP_001361429.1:n.-7-8_-7-3del
NM_001374501.1:c.24-8_24-3del	NP_001361430.1:n.24-8_24-3del
NM_001374502.1:c.24-8_24-3del	NP_001361431.1:n.24-8_24-3del
NM_001374503.1:c.24-8_24-3del	NP_001361432.1:n.24-8_24-3del
NR_164653.1:n.514-8_514-3del
NR_164654.1:n.702-8_702-3del