Canonical Allele Identifier: CA1577025721
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1748887833

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119479238_119479239insTCTCTGCA , CM000667.2:g.119479238_119479239insTCTCTGCA GRCh38
NC_000005.9:g.118814933_118814934insTCTCTGCA , CM000667.1:g.118814933_118814934insTCTCTGCA GRCh37
NC_000005.8:g.118842832_118842833insTCTCTGCA NCBI36
NG_008182.1:g.31786_31787insTCTCTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.622+217_622+218insTCTCTGCA ENSP00000426272.2:n.622+217_622+218insTCTCTGCA
ENST00000518349.6:c.113-17305_113-17304insTCTCTGCA ENSP00000507185.1:n.113-17305_113-17304insTCTCTGCA
ENST00000682445.1:c.*503+217_*503+218insTCTCTGCA ENSP00000508061.1:n.*503+217_*503+218insTCTCTGCA
ENST00000682531.1:n.723+217_723+218insTCTCTGCA
ENST00000682626.1:c.*128+217_*128+218insTCTCTGCA ENSP00000507857.1:n.*128+217_*128+218insTCTCTGCA
ENST00000682996.1:c.622+217_622+218insTCTCTGCA ENSP00000507792.1:n.622+217_622+218insTCTCTGCA
ENST00000683265.1:n.715+217_715+218insTCTCTGCA
ENST00000683371.1:c.*752+217_*752+218insTCTCTGCA ENSP00000508376.1:n.*752+217_*752+218insTCTCTGCA
ENST00000683390.1:n.2312+217_2312+218insTCTCTGCA
ENST00000683549.1:n.543+217_543+218insTCTCTGCA
ENST00000683936.1:c.*507+217_*507+218insTCTCTGCA ENSP00000507721.1:n.*507+217_*507+218insTCTCTGCA
ENST00000683974.1:n.704+217_704+218insTCTCTGCA
ENST00000683996.1:c.211+217_211+218insTCTCTGCA ENSP00000507060.1:n.211+217_211+218insTCTCTGCA
ENST00000684131.1:n.461+217_461+218insTCTCTGCA
ENST00000684160.1:c.*312+217_*312+218insTCTCTGCA ENSP00000507821.1:n.*312+217_*312+218insTCTCTGCA
ENST00000684214.1:c.622+217_622+218insTCTCTGCA ENSP00000508071.1:n.622+217_622+218insTCTCTGCA
ENST00000414835.7:c.697+217_697+218insTCTCTGCA ENSP00000411960.3:n.697+217_697+218insTCTCTGCA
ENST00000510025.7:c.622+217_622+218insTCTCTGCA MANE Select ENSP00000424940.3:n.622+217_622+218insTCTCTGCA
ENST00000643250.1:c.*494+217_*494+218insTCTCTGCA ENSP00000494737.1:n.*494+217_*494+218insTCTCTGCA
ENST00000644146.1:c.*200+217_*200+218insTCTCTGCA ENSP00000494808.1:n.*200+217_*200+218insTCTCTGCA
ENST00000645099.1:c.181+217_181+218insTCTCTGCA ENSP00000496091.1:n.181+217_181+218insTCTCTGCA
ENST00000645702.1:c.211+217_211+218insTCTCTGCA ENSP00000496432.1:n.211+217_211+218insTCTCTGCA
ENST00000645832.1:c.*507+217_*507+218insTCTCTGCA ENSP00000494316.1:n.*507+217_*507+218insTCTCTGCA
ENST00000646058.1:c.622+217_622+218insTCTCTGCA ENSP00000493579.1:n.622+217_622+218insTCTCTGCA
ENST00000646355.1:c.*628+217_*628+218insTCTCTGCA ENSP00000493801.1:n.*628+217_*628+218insTCTCTGCA
ENST00000646554.1:c.*600+217_*600+218insTCTCTGCA ENSP00000494542.1:n.*600+217_*600+218insTCTCTGCA
ENST00000647335.1:c.*589+217_*589+218insTCTCTGCA ENSP00000495180.1:n.*589+217_*589+218insTCTCTGCA
ENST00000647342.1:c.*553+217_*553+218insTCTCTGCA ENSP00000494992.1:n.*553+217_*553+218insTCTCTGCA
ENST00000256216.10:c.622+217_622+218insTCTCTGCA ENSP00000256216.6:n.622+217_622+218insTCTCTGCA
ENST00000414835.6:c.202+217_202+218insTCTCTGCA ENSP00000411960.2:n.202+217_202+218insTCTCTGCA
ENST00000442060.7:c.622+217_622+218insTCTCTGCA ENSP00000390208.3:n.622+217_622+218insTCTCTGCA
ENST00000504811.5:c.697+217_697+218insTCTCTGCA ENSP00000420914.1:n.697+217_697+218insTCTCTGCA
ENST00000505181.5:n.325+217_325+218insTCTCTGCA
ENST00000509514.5:c.-263+217_-263+218insTCTCTGCA ENSP00000426272.1:n.-263+217_-263+218insTCTCTGCA
ENST00000510025.5:c.550+217_550+218insTCTCTGCA ENSP00000424940.1:n.550+217_550+218insTCTCTGCA
ENST00000512644.1:n.190+217_190+218insTCTCTGCA
ENST00000513628.5:c.211+217_211+218insTCTCTGCA ENSP00000425993.1:n.211+217_211+218insTCTCTGCA
ENST00000515235.6:n.682+217_682+218insTCTCTGCA
ENST00000515320.5:c.568+217_568+218insTCTCTGCA ENSP00000424613.1:n.568+217_568+218insTCTCTGCA
NM_000414.3:c.622+217_622+218insTCTCTGCA NP_000405.1:n.622+217_622+218insTCTCTGCA
NM_001199291.2:c.697+217_697+218insTCTCTGCA NP_001186220.1:n.697+217_697+218insTCTCTGCA
NM_001199292.1:c.568+217_568+218insTCTCTGCA NP_001186221.1:n.568+217_568+218insTCTCTGCA
NM_001292027.1:c.550+217_550+218insTCTCTGCA NP_001278956.1:n.550+217_550+218insTCTCTGCA
NM_001292028.1:c.202+217_202+218insTCTCTGCA NP_001278957.1:n.202+217_202+218insTCTCTGCA
NM_000414.4:c.622+217_622+218insTCTCTGCA MANE Select NP_000405.1:n.622+217_622+218insTCTCTGCA
NM_001199291.3:c.697+217_697+218insTCTCTGCA NP_001186220.1:n.697+217_697+218insTCTCTGCA
NM_001199292.2:c.568+217_568+218insTCTCTGCA NP_001186221.1:n.568+217_568+218insTCTCTGCA
NM_001292027.2:c.550+217_550+218insTCTCTGCA NP_001278956.1:n.550+217_550+218insTCTCTGCA
NM_001292028.2:c.202+217_202+218insTCTCTGCA NP_001278957.1:n.202+217_202+218insTCTCTGCA
NM_001374497.1:c.613+217_613+218insTCTCTGCA NP_001361426.1:n.613+217_613+218insTCTCTGCA
NM_001374498.1:c.622+217_622+218insTCTCTGCA NP_001361427.1:n.622+217_622+218insTCTCTGCA
NM_001374499.1:c.295+217_295+218insTCTCTGCA NP_001361428.1:n.295+217_295+218insTCTCTGCA
NM_001374500.1:c.181+217_181+218insTCTCTGCA NP_001361429.1:n.181+217_181+218insTCTCTGCA
NM_001374501.1:c.211+217_211+218insTCTCTGCA NP_001361430.1:n.211+217_211+218insTCTCTGCA
NM_001374502.1:c.211+217_211+218insTCTCTGCA NP_001361431.1:n.211+217_211+218insTCTCTGCA
NM_001374503.1:c.211+217_211+218insTCTCTGCA NP_001361432.1:n.211+217_211+218insTCTCTGCA
NR_164653.1:n.701+217_701+218insTCTCTGCA
NR_164654.1:n.889+217_889+218insTCTCTGCA