Canonical Allele Identifier: CA2674979989

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119479093-T-TTCAGAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479094_119479095insCAGAAAAT , CM000667.2:g.119479094_119479095insCAGAAAAT	GRCh38
NC_000005.9:g.118814789_118814790insCAGAAAAT , CM000667.1:g.118814789_118814790insCAGAAAAT	GRCh37
NC_000005.8:g.118842688_118842689insCAGAAAAT	NCBI36
NG_008182.1:g.31642_31643insCAGAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.622+73_622+74insCAGAAAAT	ENSP00000426272.2:n.622+73_622+74insCAGAAAAT
ENST00000518349.6:c.113-17449_113-17448insCAGAAAAT	ENSP00000507185.1:n.113-17449_113-17448insCAGAAAAT
ENST00000682445.1:c.*503+73_*503+74insCAGAAAAT	ENSP00000508061.1:n.*503+73_*503+74insCAGAAAAT
ENST00000682531.1:n.723+73_723+74insCAGAAAAT
ENST00000682626.1:c.*128+73_*128+74insCAGAAAAT	ENSP00000507857.1:n.*128+73_*128+74insCAGAAAAT
ENST00000682996.1:c.622+73_622+74insCAGAAAAT	ENSP00000507792.1:n.622+73_622+74insCAGAAAAT
ENST00000683265.1:n.715+73_715+74insCAGAAAAT
ENST00000683371.1:c.*752+73_*752+74insCAGAAAAT	ENSP00000508376.1:n.*752+73_*752+74insCAGAAAAT
ENST00000683390.1:n.2312+73_2312+74insCAGAAAAT
ENST00000683549.1:n.543+73_543+74insCAGAAAAT
ENST00000683936.1:c.*507+73_*507+74insCAGAAAAT	ENSP00000507721.1:n.*507+73_*507+74insCAGAAAAT
ENST00000683974.1:n.704+73_704+74insCAGAAAAT
ENST00000683996.1:c.211+73_211+74insCAGAAAAT	ENSP00000507060.1:n.211+73_211+74insCAGAAAAT
ENST00000684131.1:n.461+73_461+74insCAGAAAAT
ENST00000684160.1:c.*312+73_*312+74insCAGAAAAT	ENSP00000507821.1:n.*312+73_*312+74insCAGAAAAT
ENST00000684214.1:c.622+73_622+74insCAGAAAAT	ENSP00000508071.1:n.622+73_622+74insCAGAAAAT
ENST00000414835.7:c.697+73_697+74insCAGAAAAT	ENSP00000411960.3:n.697+73_697+74insCAGAAAAT
ENST00000510025.7:c.622+73_622+74insCAGAAAAT MANE Select	ENSP00000424940.3:n.622+73_622+74insCAGAAAAT
ENST00000643250.1:c.*494+73_*494+74insCAGAAAAT	ENSP00000494737.1:n.*494+73_*494+74insCAGAAAAT
ENST00000644146.1:c.*200+73_*200+74insCAGAAAAT	ENSP00000494808.1:n.*200+73_*200+74insCAGAAAAT
ENST00000645099.1:c.181+73_181+74insCAGAAAAT	ENSP00000496091.1:n.181+73_181+74insCAGAAAAT
ENST00000645702.1:c.211+73_211+74insCAGAAAAT	ENSP00000496432.1:n.211+73_211+74insCAGAAAAT
ENST00000645832.1:c.*507+73_*507+74insCAGAAAAT	ENSP00000494316.1:n.*507+73_*507+74insCAGAAAAT
ENST00000646058.1:c.622+73_622+74insCAGAAAAT	ENSP00000493579.1:n.622+73_622+74insCAGAAAAT
ENST00000646355.1:c.*628+73_*628+74insCAGAAAAT	ENSP00000493801.1:n.*628+73_*628+74insCAGAAAAT
ENST00000646554.1:c.*600+73_*600+74insCAGAAAAT	ENSP00000494542.1:n.*600+73_*600+74insCAGAAAAT
ENST00000647335.1:c.*589+73_*589+74insCAGAAAAT	ENSP00000495180.1:n.*589+73_*589+74insCAGAAAAT
ENST00000647342.1:c.*553+73_*553+74insCAGAAAAT	ENSP00000494992.1:n.*553+73_*553+74insCAGAAAAT
ENST00000256216.10:c.622+73_622+74insCAGAAAAT	ENSP00000256216.6:n.622+73_622+74insCAGAAAAT
ENST00000414835.6:c.202+73_202+74insCAGAAAAT	ENSP00000411960.2:n.202+73_202+74insCAGAAAAT
ENST00000442060.7:c.622+73_622+74insCAGAAAAT	ENSP00000390208.3:n.622+73_622+74insCAGAAAAT
ENST00000504811.5:c.697+73_697+74insCAGAAAAT	ENSP00000420914.1:n.697+73_697+74insCAGAAAAT
ENST00000505181.5:n.325+73_325+74insCAGAAAAT
ENST00000509514.5:c.-263+73_-263+74insCAGAAAAT	ENSP00000426272.1:n.-263+73_-263+74insCAGAAAAT
ENST00000510025.5:c.550+73_550+74insCAGAAAAT	ENSP00000424940.1:n.550+73_550+74insCAGAAAAT
ENST00000512644.1:n.190+73_190+74insCAGAAAAT
ENST00000513628.5:c.211+73_211+74insCAGAAAAT	ENSP00000425993.1:n.211+73_211+74insCAGAAAAT
ENST00000515235.6:n.682+73_682+74insCAGAAAAT
ENST00000515320.5:c.568+73_568+74insCAGAAAAT	ENSP00000424613.1:n.568+73_568+74insCAGAAAAT
NM_000414.3:c.622+73_622+74insCAGAAAAT	NP_000405.1:n.622+73_622+74insCAGAAAAT
NM_001199291.2:c.697+73_697+74insCAGAAAAT	NP_001186220.1:n.697+73_697+74insCAGAAAAT
NM_001199292.1:c.568+73_568+74insCAGAAAAT	NP_001186221.1:n.568+73_568+74insCAGAAAAT
NM_001292027.1:c.550+73_550+74insCAGAAAAT	NP_001278956.1:n.550+73_550+74insCAGAAAAT
NM_001292028.1:c.202+73_202+74insCAGAAAAT	NP_001278957.1:n.202+73_202+74insCAGAAAAT
NM_000414.4:c.622+73_622+74insCAGAAAAT MANE Select	NP_000405.1:n.622+73_622+74insCAGAAAAT
NM_001199291.3:c.697+73_697+74insCAGAAAAT	NP_001186220.1:n.697+73_697+74insCAGAAAAT
NM_001199292.2:c.568+73_568+74insCAGAAAAT	NP_001186221.1:n.568+73_568+74insCAGAAAAT
NM_001292027.2:c.550+73_550+74insCAGAAAAT	NP_001278956.1:n.550+73_550+74insCAGAAAAT
NM_001292028.2:c.202+73_202+74insCAGAAAAT	NP_001278957.1:n.202+73_202+74insCAGAAAAT
NM_001374497.1:c.613+73_613+74insCAGAAAAT	NP_001361426.1:n.613+73_613+74insCAGAAAAT
NM_001374498.1:c.622+73_622+74insCAGAAAAT	NP_001361427.1:n.622+73_622+74insCAGAAAAT
NM_001374499.1:c.295+73_295+74insCAGAAAAT	NP_001361428.1:n.295+73_295+74insCAGAAAAT
NM_001374500.1:c.181+73_181+74insCAGAAAAT	NP_001361429.1:n.181+73_181+74insCAGAAAAT
NM_001374501.1:c.211+73_211+74insCAGAAAAT	NP_001361430.1:n.211+73_211+74insCAGAAAAT
NM_001374502.1:c.211+73_211+74insCAGAAAAT	NP_001361431.1:n.211+73_211+74insCAGAAAAT
NM_001374503.1:c.211+73_211+74insCAGAAAAT	NP_001361432.1:n.211+73_211+74insCAGAAAAT
NR_164653.1:n.701+73_701+74insCAGAAAAT
NR_164654.1:n.889+73_889+74insCAGAAAAT