Canonical Allele Identifier: CA1577025736

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479270_119479275delinsTTTTTG , CM000667.2:g.119479270_119479275delinsTTTTTG	GRCh38
NC_000005.9:g.118814965_118814970delinsTTTTTG , CM000667.1:g.118814965_118814970delinsTTTTTG	GRCh37
NC_000005.8:g.118842864_118842869delinsTTTTTG	NCBI36
NG_008182.1:g.31818_31823delinsTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.622+249_622+254delinsTTTTTG	ENSP00000426272.2:n.622+249_622+254delinsTTTTTG
ENST00000518349.6:c.113-17273_113-17268delinsTTTTTG	ENSP00000507185.1:n.113-17273_113-17268delinsTTTTTG
ENST00000682445.1:c.*503+249_*503+254delinsTTTTTG	ENSP00000508061.1:n.*503+249_*503+254delinsTTTTTG
ENST00000682531.1:n.723+249_723+254delinsTTTTTG
ENST00000682626.1:c.*128+249_*128+254delinsTTTTTG	ENSP00000507857.1:n.*128+249_*128+254delinsTTTTTG
ENST00000682996.1:c.622+249_622+254delinsTTTTTG	ENSP00000507792.1:n.622+249_622+254delinsTTTTTG
ENST00000683265.1:n.715+249_715+254delinsTTTTTG
ENST00000683371.1:c.*752+249_*752+254delinsTTTTTG	ENSP00000508376.1:n.*752+249_*752+254delinsTTTTTG
ENST00000683390.1:n.2312+249_2312+254delinsTTTTTG
ENST00000683549.1:n.543+249_543+254delinsTTTTTG
ENST00000683936.1:c.*507+249_*507+254delinsTTTTTG	ENSP00000507721.1:n.*507+249_*507+254delinsTTTTTG
ENST00000683974.1:n.704+249_704+254delinsTTTTTG
ENST00000683996.1:c.211+249_211+254delinsTTTTTG	ENSP00000507060.1:n.211+249_211+254delinsTTTTTG
ENST00000684131.1:n.461+249_461+254delinsTTTTTG
ENST00000684160.1:c.*312+249_*312+254delinsTTTTTG	ENSP00000507821.1:n.*312+249_*312+254delinsTTTTTG
ENST00000684214.1:c.622+249_622+254delinsTTTTTG	ENSP00000508071.1:n.622+249_622+254delinsTTTTTG
ENST00000414835.7:c.697+249_697+254delinsTTTTTG	ENSP00000411960.3:n.697+249_697+254delinsTTTTTG
ENST00000510025.7:c.622+249_622+254delinsTTTTTG MANE Select	ENSP00000424940.3:n.622+249_622+254delinsTTTTTG
ENST00000643250.1:c.*494+249_*494+254delinsTTTTTG	ENSP00000494737.1:n.*494+249_*494+254delinsTTTTTG
ENST00000644146.1:c.*200+249_*200+254delinsTTTTTG	ENSP00000494808.1:n.*200+249_*200+254delinsTTTTTG
ENST00000645099.1:c.181+249_181+254delinsTTTTTG	ENSP00000496091.1:n.181+249_181+254delinsTTTTTG
ENST00000645702.1:c.211+249_211+254delinsTTTTTG	ENSP00000496432.1:n.211+249_211+254delinsTTTTTG
ENST00000645832.1:c.*507+249_*507+254delinsTTTTTG	ENSP00000494316.1:n.*507+249_*507+254delinsTTTTTG
ENST00000646058.1:c.622+249_622+254delinsTTTTTG	ENSP00000493579.1:n.622+249_622+254delinsTTTTTG
ENST00000646355.1:c.*628+249_*628+254delinsTTTTTG	ENSP00000493801.1:n.*628+249_*628+254delinsTTTTTG
ENST00000646554.1:c.*600+249_*600+254delinsTTTTTG	ENSP00000494542.1:n.*600+249_*600+254delinsTTTTTG
ENST00000647335.1:c.*589+249_*589+254delinsTTTTTG	ENSP00000495180.1:n.*589+249_*589+254delinsTTTTTG
ENST00000647342.1:c.*553+249_*553+254delinsTTTTTG	ENSP00000494992.1:n.*553+249_*553+254delinsTTTTTG
ENST00000256216.10:c.622+249_622+254delinsTTTTTG	ENSP00000256216.6:n.622+249_622+254delinsTTTTTG
ENST00000414835.6:c.202+249_202+254delinsTTTTTG	ENSP00000411960.2:n.202+249_202+254delinsTTTTTG
ENST00000442060.7:c.622+249_622+254delinsTTTTTG	ENSP00000390208.3:n.622+249_622+254delinsTTTTTG
ENST00000504811.5:c.697+249_697+254delinsTTTTTG	ENSP00000420914.1:n.697+249_697+254delinsTTTTTG
ENST00000505181.5:n.325+249_325+254delinsTTTTTG
ENST00000509514.5:c.-263+249_-263+254delinsTTTTTG	ENSP00000426272.1:n.-263+249_-263+254delinsTTTTTG
ENST00000510025.5:c.550+249_550+254delinsTTTTTG	ENSP00000424940.1:n.550+249_550+254delinsTTTTTG
ENST00000512644.1:n.190+249_190+254delinsTTTTTG
ENST00000513628.5:c.211+249_211+254delinsTTTTTG	ENSP00000425993.1:n.211+249_211+254delinsTTTTTG
ENST00000515235.6:n.682+249_682+254delinsTTTTTG
ENST00000515320.5:c.568+249_568+254delinsTTTTTG	ENSP00000424613.1:n.568+249_568+254delinsTTTTTG
NM_000414.3:c.622+249_622+254delinsTTTTTG	NP_000405.1:n.622+249_622+254delinsTTTTTG
NM_001199291.2:c.697+249_697+254delinsTTTTTG	NP_001186220.1:n.697+249_697+254delinsTTTTTG
NM_001199292.1:c.568+249_568+254delinsTTTTTG	NP_001186221.1:n.568+249_568+254delinsTTTTTG
NM_001292027.1:c.550+249_550+254delinsTTTTTG	NP_001278956.1:n.550+249_550+254delinsTTTTTG
NM_001292028.1:c.202+249_202+254delinsTTTTTG	NP_001278957.1:n.202+249_202+254delinsTTTTTG
NM_000414.4:c.622+249_622+254delinsTTTTTG MANE Select	NP_000405.1:n.622+249_622+254delinsTTTTTG
NM_001199291.3:c.697+249_697+254delinsTTTTTG	NP_001186220.1:n.697+249_697+254delinsTTTTTG
NM_001199292.2:c.568+249_568+254delinsTTTTTG	NP_001186221.1:n.568+249_568+254delinsTTTTTG
NM_001292027.2:c.550+249_550+254delinsTTTTTG	NP_001278956.1:n.550+249_550+254delinsTTTTTG
NM_001292028.2:c.202+249_202+254delinsTTTTTG	NP_001278957.1:n.202+249_202+254delinsTTTTTG
NM_001374497.1:c.613+249_613+254delinsTTTTTG	NP_001361426.1:n.613+249_613+254delinsTTTTTG
NM_001374498.1:c.622+249_622+254delinsTTTTTG	NP_001361427.1:n.622+249_622+254delinsTTTTTG
NM_001374499.1:c.295+249_295+254delinsTTTTTG	NP_001361428.1:n.295+249_295+254delinsTTTTTG
NM_001374500.1:c.181+249_181+254delinsTTTTTG	NP_001361429.1:n.181+249_181+254delinsTTTTTG
NM_001374501.1:c.211+249_211+254delinsTTTTTG	NP_001361430.1:n.211+249_211+254delinsTTTTTG
NM_001374502.1:c.211+249_211+254delinsTTTTTG	NP_001361431.1:n.211+249_211+254delinsTTTTTG
NM_001374503.1:c.211+249_211+254delinsTTTTTG	NP_001361432.1:n.211+249_211+254delinsTTTTTG
NR_164653.1:n.701+249_701+254delinsTTTTTG
NR_164654.1:n.889+249_889+254delinsTTTTTG