Canonical Allele Identifier: CA2674982636

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119515085-TTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119515089_119515091del , CM000667.2:g.119515089_119515091del	GRCh38
NC_000005.9:g.118850784_118850786del , CM000667.1:g.118850784_118850786del	GRCh37
NC_000005.8:g.118878683_118878685del	NCBI36
NG_008182.1:g.67637_67639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1434+43_1434+45del	ENSP00000426272.2:n.1434+43_1434+45del
ENST00000518349.6:c.747+43_747+45del	ENSP00000507185.1:n.747+43_747+45del
ENST00000520244.6:n.3241+43_3241+45del
ENST00000682445.1:c.*1384+43_*1384+45del	ENSP00000508061.1:n.*1384+43_*1384+45del
ENST00000682531.1:n.3395+43_3395+45del
ENST00000682626.1:c.*1009+43_*1009+45del	ENSP00000507857.1:n.*1009+43_*1009+45del
ENST00000682996.1:c.1431+43_1431+45del	ENSP00000507792.1:n.1431+43_1431+45del
ENST00000683265.1:n.3289+43_3289+45del
ENST00000683335.1:n.2905+43_2905+45del
ENST00000683371.1:c.*1633+43_*1633+45del	ENSP00000508376.1:n.*1633+43_*1633+45del
ENST00000683372.1:n.3513+43_3513+45del
ENST00000683390.1:n.3193+43_3193+45del
ENST00000683549.1:n.3117+43_3117+45del
ENST00000683936.1:c.*3081+43_*3081+45del	ENSP00000507721.1:n.*3081+43_*3081+45del
ENST00000683974.1:n.3232+43_3232+45del
ENST00000683996.1:c.*713+43_*713+45del	ENSP00000507060.1:n.*713+43_*713+45del
ENST00000684131.1:n.3035+43_3035+45del
ENST00000684160.1:c.*1193+43_*1193+45del	ENSP00000507821.1:n.*1193+43_*1193+45del
ENST00000684214.1:c.1503+43_1503+45del	ENSP00000508071.1:n.1503+43_1503+45del
ENST00000414835.7:c.1578+43_1578+45del	ENSP00000411960.3:n.1578+43_1578+45del
ENST00000510025.7:c.1503+43_1503+45del MANE Select	ENSP00000424940.3:n.1503+43_1503+45del
ENST00000643250.1:c.*1375+43_*1375+45del	ENSP00000494737.1:n.*1375+43_*1375+45del
ENST00000644146.1:c.*2774+43_*2774+45del	ENSP00000494808.1:n.*2774+43_*2774+45del
ENST00000645099.1:c.1062+43_1062+45del	ENSP00000496091.1:n.1062+43_1062+45del
ENST00000645702.1:c.*906+43_*906+45del	ENSP00000496432.1:n.*906+43_*906+45del
ENST00000645832.1:c.*1388+43_*1388+45del	ENSP00000494316.1:n.*1388+43_*1388+45del
ENST00000646058.1:c.1503+43_1503+45del	ENSP00000493579.1:n.1503+43_1503+45del
ENST00000646355.1:c.*1509+43_*1509+45del	ENSP00000493801.1:n.*1509+43_*1509+45del
ENST00000646554.1:c.*1481+43_*1481+45del	ENSP00000494542.1:n.*1481+43_*1481+45del
ENST00000647335.1:c.*1470+43_*1470+45del	ENSP00000495180.1:n.*1470+43_*1470+45del
ENST00000647342.1:c.*1434+43_*1434+45del	ENSP00000494992.1:n.*1434+43_*1434+45del
ENST00000256216.10:c.1503+43_1503+45del	ENSP00000256216.6:n.1503+43_1503+45del
ENST00000414835.6:c.1083+43_1083+45del	ENSP00000411960.2:n.1083+43_1083+45del
ENST00000442060.7:c.*65+43_*65+45del	ENSP00000390208.3:n.*65+43_*65+45del
ENST00000504811.5:c.1578+43_1578+45del	ENSP00000420914.1:n.1578+43_1578+45del
ENST00000509514.5:c.717+43_717+45del	ENSP00000426272.1:n.717+43_717+45del
ENST00000510025.5:c.1431+43_1431+45del	ENSP00000424940.1:n.1431+43_1431+45del
ENST00000513628.5:c.1092+43_1092+45del	ENSP00000425993.1:n.1092+43_1092+45del
ENST00000515235.6:n.3256+43_3256+45del
ENST00000515320.5:c.1449+43_1449+45del	ENSP00000424613.1:n.1449+43_1449+45del
ENST00000518349.5:n.637+43_637+45del
ENST00000520244.5:n.286+43_286+45del
ENST00000522415.5:n.170+43_170+45del
NM_000414.3:c.1503+43_1503+45del	NP_000405.1:n.1503+43_1503+45del
NM_001199291.2:c.1578+43_1578+45del	NP_001186220.1:n.1578+43_1578+45del
NM_001199292.1:c.1449+43_1449+45del	NP_001186221.1:n.1449+43_1449+45del
NM_001292027.1:c.1431+43_1431+45del	NP_001278956.1:n.1431+43_1431+45del
NM_001292028.1:c.1083+43_1083+45del	NP_001278957.1:n.1083+43_1083+45del
NM_000414.4:c.1503+43_1503+45del MANE Select	NP_000405.1:n.1503+43_1503+45del
NM_001199291.3:c.1578+43_1578+45del	NP_001186220.1:n.1578+43_1578+45del
NM_001199292.2:c.1449+43_1449+45del	NP_001186221.1:n.1449+43_1449+45del
NM_001292027.2:c.1431+43_1431+45del	NP_001278956.1:n.1431+43_1431+45del
NM_001292028.2:c.1083+43_1083+45del	NP_001278957.1:n.1083+43_1083+45del
NM_001374497.1:c.1494+43_1494+45del	NP_001361426.1:n.1494+43_1494+45del
NM_001374498.1:c.1431+43_1431+45del	NP_001361427.1:n.1431+43_1431+45del
NM_001374499.1:c.1176+43_1176+45del	NP_001361428.1:n.1176+43_1176+45del
NM_001374500.1:c.1062+43_1062+45del	NP_001361429.1:n.1062+43_1062+45del
NM_001374501.1:c.1092+43_1092+45del	NP_001361430.1:n.1092+43_1092+45del
NM_001374502.1:c.1092+43_1092+45del	NP_001361431.1:n.1092+43_1092+45del
NM_001374503.1:c.1092+43_1092+45del	NP_001361432.1:n.1092+43_1092+45del
NR_164653.1:n.1600+43_1600+45del
NR_164654.1:n.1868+43_1868+45del