Canonical Allele Identifier: CA802759692

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1343167350
• gnomAD v3: 5-119474358-AG-A
• gnomAD v4: 5-119474358-AG-A
• MyVariant Identifiers: chr5:g.118810054del (hg19) ; chr5:g.119474359del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119474361del , CM000667.2:g.119474361del	GRCh38
NC_000005.9:g.118810056del , CM000667.1:g.118810056del	GRCh37
NC_000005.8:g.118837955del	NCBI36
NG_008182.1:g.26909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.221-40del	ENSP00000426272.2:n.221-40del
ENST00000512841.6:n.262-40del
ENST00000518349.6:c.112+17993del	ENSP00000507185.1:n.112+17993del
ENST00000682445.1:c.*102-40del	ENSP00000508061.1:n.*102-40del
ENST00000682531.1:n.322-40del
ENST00000682626.1:c.296-40del	ENSP00000507857.1:n.296-40del
ENST00000682996.1:c.221-40del	ENSP00000507792.1:n.221-40del
ENST00000683265.1:n.314-40del
ENST00000683371.1:c.*351-40del	ENSP00000508376.1:n.*351-40del
ENST00000683390.1:n.269-40del
ENST00000683936.1:c.*106-40del	ENSP00000507721.1:n.*106-40del
ENST00000683974.1:n.303-40del
ENST00000684160.1:c.296-40del	ENSP00000507821.1:n.296-40del
ENST00000684214.1:c.221-40del	ENSP00000508071.1:n.221-40del
ENST00000414835.7:c.296-40del	ENSP00000411960.3:n.296-40del
ENST00000510025.7:c.221-40del MANE Select	ENSP00000424940.3:n.221-40del
ENST00000643250.1:c.*102-40del	ENSP00000494737.1:n.*102-40del
ENST00000644146.1:c.221-40del	ENSP00000494808.1:n.221-40del
ENST00000645832.1:c.*106-40del	ENSP00000494316.1:n.*106-40del
ENST00000646058.1:c.221-40del	ENSP00000493579.1:n.221-40del
ENST00000646355.1:c.*227-40del	ENSP00000493801.1:n.*227-40del
ENST00000646554.1:c.*102-40del	ENSP00000494542.1:n.*102-40del
ENST00000646590.1:c.221-40del	ENSP00000494892.1:n.221-40del
ENST00000647335.1:c.*188-40del	ENSP00000495180.1:n.*188-40del
ENST00000647342.1:c.*102-40del	ENSP00000494992.1:n.*102-40del
ENST00000256216.10:c.221-40del	ENSP00000256216.6:n.221-40del
ENST00000414835.6:c.-191-40del	ENSP00000411960.2:n.-191-40del
ENST00000442060.7:c.221-40del	ENSP00000390208.3:n.221-40del
ENST00000503168.5:n.210-40del
ENST00000504811.5:c.296-40del	ENSP00000420914.1:n.296-40del
ENST00000507695.1:n.165-40del
ENST00000510025.5:c.149-40del	ENSP00000424940.1:n.149-40del
ENST00000511186.5:n.324-40del
ENST00000512841.5:n.269-40del
ENST00000515235.6:n.281-40del
ENST00000515320.5:c.167-40del	ENSP00000424613.1:n.167-40del
NM_000414.3:c.221-40del	NP_000405.1:n.221-40del
NM_001199291.2:c.296-40del	NP_001186220.1:n.296-40del
NM_001199292.1:c.167-40del	NP_001186221.1:n.167-40del
NM_001292027.1:c.149-40del	NP_001278956.1:n.149-40del
NM_001292028.1:c.-191-40del	NP_001278957.1:n.-191-40del
NM_000414.4:c.221-40del MANE Select	NP_000405.1:n.221-40del
NM_001199291.3:c.296-40del	NP_001186220.1:n.296-40del
NM_001199292.2:c.167-40del	NP_001186221.1:n.167-40del
NM_001292027.2:c.149-40del	NP_001278956.1:n.149-40del
NM_001292028.2:c.-191-40del	NP_001278957.1:n.-191-40del
NM_001374497.1:c.221-40del	NP_001361426.1:n.221-40del
NM_001374498.1:c.221-40del	NP_001361427.1:n.221-40del
NM_001374499.1:c.-60-40del	NP_001361428.1:n.-60-40del
NM_001374500.1:c.-318-40del	NP_001361429.1:n.-318-40del
NM_001374501.1:c.-191-40del	NP_001361430.1:n.-191-40del
NM_001374502.1:c.-191-40del	NP_001361431.1:n.-191-40del
NM_001374503.1:c.-191-40del	NP_001361432.1:n.-191-40del
NR_164653.1:n.300-40del
NR_164654.1:n.488-40del