Canonical Allele Identifier: CA1080711428

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1748892194
• gnomAD v3: 5-119479270-TTTTTG-T
• gnomAD v4: 5-119479270-TTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479275_119479279del , CM000667.2:g.119479275_119479279del	GRCh38
NC_000005.9:g.118814970_118814974del , CM000667.1:g.118814970_118814974del	GRCh37
NC_000005.8:g.118842869_118842873del	NCBI36
NG_008182.1:g.31823_31827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.622+254_622+258del	ENSP00000426272.2:n.622+254_622+258del
ENST00000518349.6:c.113-17268_113-17264del	ENSP00000507185.1:n.113-17268_113-17264del
ENST00000682445.1:c.*503+254_*503+258del	ENSP00000508061.1:n.*503+254_*503+258del
ENST00000682531.1:n.723+254_723+258del
ENST00000682626.1:c.*128+254_*128+258del	ENSP00000507857.1:n.*128+254_*128+258del
ENST00000682996.1:c.622+254_622+258del	ENSP00000507792.1:n.622+254_622+258del
ENST00000683265.1:n.715+254_715+258del
ENST00000683371.1:c.*752+254_*752+258del	ENSP00000508376.1:n.*752+254_*752+258del
ENST00000683390.1:n.2312+254_2312+258del
ENST00000683549.1:n.543+254_543+258del
ENST00000683936.1:c.*507+254_*507+258del	ENSP00000507721.1:n.*507+254_*507+258del
ENST00000683974.1:n.704+254_704+258del
ENST00000683996.1:c.211+254_211+258del	ENSP00000507060.1:n.211+254_211+258del
ENST00000684131.1:n.461+254_461+258del
ENST00000684160.1:c.*312+254_*312+258del	ENSP00000507821.1:n.*312+254_*312+258del
ENST00000684214.1:c.622+254_622+258del	ENSP00000508071.1:n.622+254_622+258del
ENST00000414835.7:c.697+254_697+258del	ENSP00000411960.3:n.697+254_697+258del
ENST00000510025.7:c.622+254_622+258del MANE Select	ENSP00000424940.3:n.622+254_622+258del
ENST00000643250.1:c.*494+254_*494+258del	ENSP00000494737.1:n.*494+254_*494+258del
ENST00000644146.1:c.*200+254_*200+258del	ENSP00000494808.1:n.*200+254_*200+258del
ENST00000645099.1:c.181+254_181+258del	ENSP00000496091.1:n.181+254_181+258del
ENST00000645702.1:c.211+254_211+258del	ENSP00000496432.1:n.211+254_211+258del
ENST00000645832.1:c.*507+254_*507+258del	ENSP00000494316.1:n.*507+254_*507+258del
ENST00000646058.1:c.622+254_622+258del	ENSP00000493579.1:n.622+254_622+258del
ENST00000646355.1:c.*628+254_*628+258del	ENSP00000493801.1:n.*628+254_*628+258del
ENST00000646554.1:c.*600+254_*600+258del	ENSP00000494542.1:n.*600+254_*600+258del
ENST00000647335.1:c.*589+254_*589+258del	ENSP00000495180.1:n.*589+254_*589+258del
ENST00000647342.1:c.*553+254_*553+258del	ENSP00000494992.1:n.*553+254_*553+258del
ENST00000256216.10:c.622+254_622+258del	ENSP00000256216.6:n.622+254_622+258del
ENST00000414835.6:c.202+254_202+258del	ENSP00000411960.2:n.202+254_202+258del
ENST00000442060.7:c.622+254_622+258del	ENSP00000390208.3:n.622+254_622+258del
ENST00000504811.5:c.697+254_697+258del	ENSP00000420914.1:n.697+254_697+258del
ENST00000505181.5:n.325+254_325+258del
ENST00000509514.5:c.-263+254_-263+258del	ENSP00000426272.1:n.-263+254_-263+258del
ENST00000510025.5:c.550+254_550+258del	ENSP00000424940.1:n.550+254_550+258del
ENST00000512644.1:n.190+254_190+258del
ENST00000513628.5:c.211+254_211+258del	ENSP00000425993.1:n.211+254_211+258del
ENST00000515235.6:n.682+254_682+258del
ENST00000515320.5:c.568+254_568+258del	ENSP00000424613.1:n.568+254_568+258del
NM_000414.3:c.622+254_622+258del	NP_000405.1:n.622+254_622+258del
NM_001199291.2:c.697+254_697+258del	NP_001186220.1:n.697+254_697+258del
NM_001199292.1:c.568+254_568+258del	NP_001186221.1:n.568+254_568+258del
NM_001292027.1:c.550+254_550+258del	NP_001278956.1:n.550+254_550+258del
NM_001292028.1:c.202+254_202+258del	NP_001278957.1:n.202+254_202+258del
NM_000414.4:c.622+254_622+258del MANE Select	NP_000405.1:n.622+254_622+258del
NM_001199291.3:c.697+254_697+258del	NP_001186220.1:n.697+254_697+258del
NM_001199292.2:c.568+254_568+258del	NP_001186221.1:n.568+254_568+258del
NM_001292027.2:c.550+254_550+258del	NP_001278956.1:n.550+254_550+258del
NM_001292028.2:c.202+254_202+258del	NP_001278957.1:n.202+254_202+258del
NM_001374497.1:c.613+254_613+258del	NP_001361426.1:n.613+254_613+258del
NM_001374498.1:c.622+254_622+258del	NP_001361427.1:n.622+254_622+258del
NM_001374499.1:c.295+254_295+258del	NP_001361428.1:n.295+254_295+258del
NM_001374500.1:c.181+254_181+258del	NP_001361429.1:n.181+254_181+258del
NM_001374501.1:c.211+254_211+258del	NP_001361430.1:n.211+254_211+258del
NM_001374502.1:c.211+254_211+258del	NP_001361431.1:n.211+254_211+258del
NM_001374503.1:c.211+254_211+258del	NP_001361432.1:n.211+254_211+258del
NR_164653.1:n.701+254_701+258del
NR_164654.1:n.889+254_889+258del