Canonical Allele Identifier: CA1080711261

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1748845164
• gnomAD v3: 5-119478839-TTA-T
• gnomAD v4: 5-119478839-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478841_119478842del , CM000667.2:g.119478841_119478842del	GRCh38
NC_000005.9:g.118814536_118814537del , CM000667.1:g.118814536_118814537del	GRCh37
NC_000005.8:g.118842435_118842436del	NCBI36
NG_008182.1:g.31389_31390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.442_443del	ENSP00000426272.2:p.Met148AspfsTer17
ENST00000518349.6:c.113-17702_113-17701del	ENSP00000507185.1:n.113-17702_113-17701del
ENST00000682445.1:c.*323_*324del	ENSP00000508061.1:n.*323_*324del
ENST00000682531.1:n.543_544del
ENST00000682626.1:c.470_471del	ENSP00000507857.1:p.Tyr157Ter
ENST00000682996.1:c.442_443del	ENSP00000507792.1:p.Met148AspfsTer17
ENST00000683265.1:n.535_536del
ENST00000683371.1:c.*572_*573del	ENSP00000508376.1:n.*572_*573del
ENST00000683390.1:n.2132_2133del
ENST00000683549.1:n.363_364del
ENST00000683936.1:c.*327_*328del	ENSP00000507721.1:n.*327_*328del
ENST00000683974.1:n.524_525del
ENST00000683996.1:c.31_32del	ENSP00000507060.1:p.Met11AspfsTer17
ENST00000684131.1:n.281_282del
ENST00000684160.1:c.*132_*133del	ENSP00000507821.1:n.*132_*133del
ENST00000684214.1:c.442_443del	ENSP00000508071.1:p.Met148AspfsTer17
ENST00000414835.7:c.517_518del	ENSP00000411960.3:p.Met173AspfsTer17
ENST00000510025.7:c.442_443del MANE Select	ENSP00000424940.3:p.Met148AspfsTer17
ENST00000643250.1:c.*314_*315del	ENSP00000494737.1:n.*314_*315del
ENST00000644146.1:c.*20_*21del	ENSP00000494808.1:n.*20_*21del
ENST00000645099.1:c.1_2del	ENSP00000496091.1:p.Met1AspfsTer17
ENST00000645702.1:c.31_32del	ENSP00000496432.1:p.Met11AspfsTer17
ENST00000645832.1:c.*327_*328del	ENSP00000494316.1:n.*327_*328del
ENST00000646058.1:c.442_443del	ENSP00000493579.1:p.Met148AspfsTer17
ENST00000646355.1:c.*448_*449del	ENSP00000493801.1:n.*448_*449del
ENST00000646554.1:c.*420_*421del	ENSP00000494542.1:n.*420_*421del
ENST00000646590.1:c.433_434del	ENSP00000494892.1:p.Met145AspfsTer17
ENST00000647335.1:c.*409_*410del	ENSP00000495180.1:n.*409_*410del
ENST00000647342.1:c.*373_*374del	ENSP00000494992.1:n.*373_*374del
ENST00000256216.10:c.442_443del	ENSP00000256216.6:p.Met148AspfsTer17
ENST00000414835.6:c.22_23del	ENSP00000411960.2:p.Met8AspfsTer17
ENST00000442060.7:c.442_443del	ENSP00000390208.3:p.Met148AspfsTer17
ENST00000503168.5:n.431_432del
ENST00000504811.5:c.517_518del	ENSP00000420914.1:p.Met173AspfsTer17
ENST00000505181.5:n.145_146del
ENST00000508788.5:n.344_345del
ENST00000509514.5:c.-443_-442del	ENSP00000426272.1:n.-443_-442del
ENST00000510025.5:c.370_371del	ENSP00000424940.1:p.Met124AspfsTer17
ENST00000512644.1:n.10_11del
ENST00000512841.5:n.490_491del
ENST00000513628.5:c.31_32del	ENSP00000425993.1:p.Met11AspfsTer17
ENST00000515235.6:n.502_503del
ENST00000515320.5:c.388_389del	ENSP00000424613.1:p.Met130AspfsTer17
NM_000414.3:c.442_443del	NP_000405.1:p.Met148AspfsTer17
NM_001199291.2:c.517_518del	NP_001186220.1:p.Met173AspfsTer17
NM_001199292.1:c.388_389del	NP_001186221.1:p.Met130AspfsTer17
NM_001292027.1:c.370_371del	NP_001278956.1:p.Met124AspfsTer17
NM_001292028.1:c.22_23del	NP_001278957.1:p.Met8AspfsTer17
NM_000414.4:c.442_443del MANE Select	NP_000405.1:p.Met148AspfsTer17
NM_001199291.3:c.517_518del	NP_001186220.1:p.Met173AspfsTer17
NM_001199292.2:c.388_389del	NP_001186221.1:p.Met130AspfsTer17
NM_001292027.2:c.370_371del	NP_001278956.1:p.Met124AspfsTer17
NM_001292028.2:c.22_23del	NP_001278957.1:p.Met8AspfsTer17
NM_001374497.1:c.433_434del	NP_001361426.1:p.Met145AspfsTer17
NM_001374498.1:c.442_443del	NP_001361427.1:p.Met148AspfsTer17
NM_001374499.1:c.115_116del	NP_001361428.1:p.Met39AspfsTer17
NM_001374500.1:c.1_2del	NP_001361429.1:p.Met1AspfsTer17
NM_001374501.1:c.31_32del	NP_001361430.1:p.Met11AspfsTer17
NM_001374502.1:c.31_32del	NP_001361431.1:p.Met11AspfsTer17
NM_001374503.1:c.31_32del	NP_001361432.1:p.Met11AspfsTer17
NR_164653.1:n.521_522del
NR_164654.1:n.709_710del