Canonical Allele Identifier: CA2573138654

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1371276
• ClinVar RCV Id: RCV001878915
• dbSNP Id: rs2126702418
• gnomAD v3: 5-119478837-TA-T
• gnomAD v4: 5-119478837-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478838del , CM000667.2:g.119478838del	GRCh38
NC_000005.9:g.118814533del , CM000667.1:g.118814533del	GRCh37
NC_000005.8:g.118842432del	NCBI36
NG_008182.1:g.31386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.439del	ENSP00000426272.2:p.Ile147LeufsTer2
ENST00000518349.6:c.113-17705del	ENSP00000507185.1:n.113-17705del
ENST00000682445.1:c.*320del	ENSP00000508061.1:n.*320del
ENST00000682531.1:n.540del
ENST00000682626.1:c.467del	ENSP00000507857.1:p.Tyr156PhefsTer?
ENST00000682996.1:c.439del	ENSP00000507792.1:p.Ile147LeufsTer2
ENST00000683265.1:n.532del
ENST00000683371.1:c.*569del	ENSP00000508376.1:n.*569del
ENST00000683390.1:n.2129del
ENST00000683549.1:n.360del
ENST00000683936.1:c.*324del	ENSP00000507721.1:n.*324del
ENST00000683974.1:n.521del
ENST00000683996.1:c.28del	ENSP00000507060.1:p.Ile10LeufsTer2
ENST00000684131.1:n.278del
ENST00000684160.1:c.*129del	ENSP00000507821.1:n.*129del
ENST00000684214.1:c.439del	ENSP00000508071.1:p.Ile147LeufsTer2
ENST00000414835.7:c.514del	ENSP00000411960.3:p.Ile172LeufsTer2
ENST00000510025.7:c.439del MANE Select	ENSP00000424940.3:p.Ile147LeufsTer2
ENST00000643250.1:c.*311del	ENSP00000494737.1:n.*311del
ENST00000644146.1:c.*17del	ENSP00000494808.1:n.*17del
ENST00000645099.1:c.-3del	ENSP00000496091.1:n.-3del
ENST00000645702.1:c.28del	ENSP00000496432.1:p.Ile10LeufsTer2
ENST00000645832.1:c.*324del	ENSP00000494316.1:n.*324del
ENST00000646058.1:c.439del	ENSP00000493579.1:p.Ile147LeufsTer2
ENST00000646355.1:c.*445del	ENSP00000493801.1:n.*445del
ENST00000646554.1:c.*417del	ENSP00000494542.1:n.*417del
ENST00000646590.1:c.430del	ENSP00000494892.1:p.Ile144LeufsTer2
ENST00000647335.1:c.*406del	ENSP00000495180.1:n.*406del
ENST00000647342.1:c.*370del	ENSP00000494992.1:n.*370del
ENST00000256216.10:c.439del	ENSP00000256216.6:p.Ile147LeufsTer2
ENST00000414835.6:c.19del	ENSP00000411960.2:p.Ile7LeufsTer2
ENST00000442060.7:c.439del	ENSP00000390208.3:p.Ile147LeufsTer2
ENST00000503168.5:n.428del
ENST00000504811.5:c.514del	ENSP00000420914.1:p.Ile172LeufsTer2
ENST00000505181.5:n.142del
ENST00000508788.5:n.341del
ENST00000509514.5:c.-446del	ENSP00000426272.1:n.-446del
ENST00000510025.5:c.367del	ENSP00000424940.1:p.Ile123LeufsTer2
ENST00000512644.1:n.7del
ENST00000512841.5:n.487del
ENST00000513628.5:c.28del	ENSP00000425993.1:p.Ile10LeufsTer2
ENST00000515235.6:n.499del
ENST00000515320.5:c.385del	ENSP00000424613.1:p.Ile129LeufsTer2
NM_000414.3:c.439del	NP_000405.1:p.Ile147LeufsTer2
NM_001199291.2:c.514del	NP_001186220.1:p.Ile172LeufsTer2
NM_001199292.1:c.385del	NP_001186221.1:p.Ile129LeufsTer2
NM_001292027.1:c.367del	NP_001278956.1:p.Ile123LeufsTer2
NM_001292028.1:c.19del	NP_001278957.1:p.Ile7LeufsTer2
NM_000414.4:c.439del MANE Select	NP_000405.1:p.Ile147LeufsTer2
NM_001199291.3:c.514del	NP_001186220.1:p.Ile172LeufsTer2
NM_001199292.2:c.385del	NP_001186221.1:p.Ile129LeufsTer2
NM_001292027.2:c.367del	NP_001278956.1:p.Ile123LeufsTer2
NM_001292028.2:c.19del	NP_001278957.1:p.Ile7LeufsTer2
NM_001374497.1:c.430del	NP_001361426.1:p.Ile144LeufsTer2
NM_001374498.1:c.439del	NP_001361427.1:p.Ile147LeufsTer2
NM_001374499.1:c.112del	NP_001361428.1:p.Ile38LeufsTer2
NM_001374500.1:c.-3del	NP_001361429.1:n.-3del
NM_001374501.1:c.28del	NP_001361430.1:p.Ile10LeufsTer2
NM_001374502.1:c.28del	NP_001361431.1:p.Ile10LeufsTer2
NM_001374503.1:c.28del	NP_001361432.1:p.Ile10LeufsTer2
NR_164653.1:n.518del
NR_164654.1:n.706del