Canonical Allele Identifier: CA2573138658

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1404290
• ClinVar RCV Id: RCV001901577
• dbSNP Id: rs2126703106
• gnomAD v4: 5-119478985-G-GCGGGATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478989_119478996dup , CM000667.2:g.119478989_119478996dup	GRCh38
NC_000005.9:g.118814684_118814691dup , CM000667.1:g.118814684_118814691dup	GRCh37
NC_000005.8:g.118842583_118842590dup	NCBI36
NG_008182.1:g.31537_31544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.590_597dup	ENSP00000426272.2:p.Met200AspfsTer4
ENST00000518349.6:c.113-17554_113-17547dup	ENSP00000507185.1:n.113-17554_113-17547dup
ENST00000682445.1:c.*471_*478dup	ENSP00000508061.1:n.*471_*478dup
ENST00000682531.1:n.691_698dup
ENST00000682626.1:c.*96_*103dup	ENSP00000507857.1:n.*96_*103dup
ENST00000682996.1:c.590_597dup	ENSP00000507792.1:p.Met200AspfsTer4
ENST00000683265.1:n.683_690dup
ENST00000683371.1:c.*720_*727dup	ENSP00000508376.1:n.*720_*727dup
ENST00000683390.1:n.2280_2287dup
ENST00000683549.1:n.511_518dup
ENST00000683936.1:c.*475_*482dup	ENSP00000507721.1:n.*475_*482dup
ENST00000683974.1:n.672_679dup
ENST00000683996.1:c.179_186dup	ENSP00000507060.1:p.Met63AspfsTer4
ENST00000684131.1:n.429_436dup
ENST00000684160.1:c.*280_*287dup	ENSP00000507821.1:n.*280_*287dup
ENST00000684214.1:c.590_597dup	ENSP00000508071.1:p.Met200AspfsTer4
ENST00000414835.7:c.665_672dup	ENSP00000411960.3:p.Met225AspfsTer4
ENST00000510025.7:c.590_597dup MANE Select	ENSP00000424940.3:p.Met200AspfsTer4
ENST00000643250.1:c.*462_*469dup	ENSP00000494737.1:n.*462_*469dup
ENST00000644146.1:c.*168_*175dup	ENSP00000494808.1:n.*168_*175dup
ENST00000645099.1:c.149_156dup	ENSP00000496091.1:p.Met53AspfsTer4
ENST00000645702.1:c.179_186dup	ENSP00000496432.1:p.Met63AspfsTer4
ENST00000645832.1:c.*475_*482dup	ENSP00000494316.1:n.*475_*482dup
ENST00000646058.1:c.590_597dup	ENSP00000493579.1:p.Met200AspfsTer4
ENST00000646355.1:c.*596_*603dup	ENSP00000493801.1:n.*596_*603dup
ENST00000646554.1:c.*568_*575dup	ENSP00000494542.1:n.*568_*575dup
ENST00000647335.1:c.*557_*564dup	ENSP00000495180.1:n.*557_*564dup
ENST00000647342.1:c.*521_*528dup	ENSP00000494992.1:n.*521_*528dup
ENST00000256216.10:c.590_597dup	ENSP00000256216.6:p.Met200AspfsTer4
ENST00000414835.6:c.170_177dup	ENSP00000411960.2:p.Met60AspfsTer4
ENST00000442060.7:c.590_597dup	ENSP00000390208.3:p.Met200AspfsTer4
ENST00000503168.5:n.579_586dup
ENST00000504811.5:c.665_672dup	ENSP00000420914.1:p.Met225AspfsTer4
ENST00000505181.5:n.293_300dup
ENST00000509514.5:c.-295_-288dup	ENSP00000426272.1:n.-295_-288dup
ENST00000510025.5:c.518_525dup	ENSP00000424940.1:p.Met176AspfsTer4
ENST00000512644.1:n.158_165dup
ENST00000513628.5:c.179_186dup	ENSP00000425993.1:p.Met63AspfsTer4
ENST00000515235.6:n.650_657dup
ENST00000515320.5:c.536_543dup	ENSP00000424613.1:p.Met182AspfsTer4
NM_000414.3:c.590_597dup	NP_000405.1:p.Met200AspfsTer4
NM_001199291.2:c.665_672dup	NP_001186220.1:p.Met225AspfsTer4
NM_001199292.1:c.536_543dup	NP_001186221.1:p.Met182AspfsTer4
NM_001292027.1:c.518_525dup	NP_001278956.1:p.Met176AspfsTer4
NM_001292028.1:c.170_177dup	NP_001278957.1:p.Met60AspfsTer4
NM_000414.4:c.590_597dup MANE Select	NP_000405.1:p.Met200AspfsTer4
NM_001199291.3:c.665_672dup	NP_001186220.1:p.Met225AspfsTer4
NM_001199292.2:c.536_543dup	NP_001186221.1:p.Met182AspfsTer4
NM_001292027.2:c.518_525dup	NP_001278956.1:p.Met176AspfsTer4
NM_001292028.2:c.170_177dup	NP_001278957.1:p.Met60AspfsTer4
NM_001374497.1:c.581_588dup	NP_001361426.1:p.Met197AspfsTer4
NM_001374498.1:c.590_597dup	NP_001361427.1:p.Met200AspfsTer4
NM_001374499.1:c.263_270dup	NP_001361428.1:p.Met91AspfsTer4
NM_001374500.1:c.149_156dup	NP_001361429.1:p.Met53AspfsTer4
NM_001374501.1:c.179_186dup	NP_001361430.1:p.Met63AspfsTer4
NM_001374502.1:c.179_186dup	NP_001361431.1:p.Met63AspfsTer4
NM_001374503.1:c.179_186dup	NP_001361432.1:p.Met63AspfsTer4
NR_164653.1:n.669_676dup
NR_164654.1:n.857_864dup