Canonical Allele Identifier: CA562294815

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2200346
• ClinVar RCV Id: RCV002654696
• dbSNP Id: rs1388764483
• gnomAD v2: 5-118824876-C-CT
• gnomAD v3: 5-119489181-C-CT
• gnomAD v4: 5-119489181-C-CT
• MyVariant Identifiers: chr5:g.118824876_118824877insT (hg19) ; chr5:g.119489181_119489182insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489184dup , CM000667.2:g.119489184dup	GRCh38
NC_000005.9:g.118824879dup , CM000667.1:g.118824879dup	GRCh37
NC_000005.8:g.118852778dup	NCBI36
NG_008182.1:g.41732dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.623-8dup	ENSP00000426272.2:n.623-8dup
ENST00000518349.6:c.113-7359dup	ENSP00000507185.1:n.113-7359dup
ENST00000682445.1:c.*504-8dup	ENSP00000508061.1:n.*504-8dup
ENST00000682531.1:n.724-8dup
ENST00000682626.1:c.*129-8dup	ENSP00000507857.1:n.*129-8dup
ENST00000682996.1:c.623-8dup	ENSP00000507792.1:n.623-8dup
ENST00000683265.1:n.716-8dup
ENST00000683371.1:c.*753-8dup	ENSP00000508376.1:n.*753-8dup
ENST00000683390.1:n.2313-8dup
ENST00000683549.1:n.544-8dup
ENST00000683936.1:c.*508-8dup	ENSP00000507721.1:n.*508-8dup
ENST00000683974.1:n.705-8dup
ENST00000683996.1:c.212-8dup	ENSP00000507060.1:n.212-8dup
ENST00000684131.1:n.462-8dup
ENST00000684160.1:c.*313-8dup	ENSP00000507821.1:n.*313-8dup
ENST00000684214.1:c.623-8dup	ENSP00000508071.1:n.623-8dup
ENST00000414835.7:c.698-8dup	ENSP00000411960.3:n.698-8dup
ENST00000510025.7:c.623-8dup MANE Select	ENSP00000424940.3:n.623-8dup
ENST00000643250.1:c.*495-8dup	ENSP00000494737.1:n.*495-8dup
ENST00000644146.1:c.*201-8dup	ENSP00000494808.1:n.*201-8dup
ENST00000645099.1:c.182-8dup	ENSP00000496091.1:n.182-8dup
ENST00000645702.1:c.*26-8dup	ENSP00000496432.1:n.*26-8dup
ENST00000645832.1:c.*508-8dup	ENSP00000494316.1:n.*508-8dup
ENST00000646058.1:c.623-8dup	ENSP00000493579.1:n.623-8dup
ENST00000646355.1:c.*629-8dup	ENSP00000493801.1:n.*629-8dup
ENST00000646554.1:c.*601-8dup	ENSP00000494542.1:n.*601-8dup
ENST00000647335.1:c.*590-8dup	ENSP00000495180.1:n.*590-8dup
ENST00000647342.1:c.*554-8dup	ENSP00000494992.1:n.*554-8dup
ENST00000256216.10:c.623-8dup	ENSP00000256216.6:n.623-8dup
ENST00000414835.6:c.203-8dup	ENSP00000411960.2:n.203-8dup
ENST00000442060.7:c.623-8dup	ENSP00000390208.3:n.623-8dup
ENST00000504811.5:c.698-8dup	ENSP00000420914.1:n.698-8dup
ENST00000505181.5:n.326-8dup
ENST00000509514.5:c.-262-8dup	ENSP00000426272.1:n.-262-8dup
ENST00000510025.5:c.551-8dup	ENSP00000424940.1:n.551-8dup
ENST00000512644.1:n.191-8dup
ENST00000513628.5:c.212-8dup	ENSP00000425993.1:n.212-8dup
ENST00000515235.6:n.683-8dup
ENST00000515320.5:c.569-8dup	ENSP00000424613.1:n.569-8dup
NM_000414.3:c.623-8dup	NP_000405.1:n.623-8dup
NM_001199291.2:c.698-8dup	NP_001186220.1:n.698-8dup
NM_001199292.1:c.569-8dup	NP_001186221.1:n.569-8dup
NM_001292027.1:c.551-8dup	NP_001278956.1:n.551-8dup
NM_001292028.1:c.203-8dup	NP_001278957.1:n.203-8dup
NM_000414.4:c.623-8dup MANE Select	NP_000405.1:n.623-8dup
NM_001199291.3:c.698-8dup	NP_001186220.1:n.698-8dup
NM_001199292.2:c.569-8dup	NP_001186221.1:n.569-8dup
NM_001292027.2:c.551-8dup	NP_001278956.1:n.551-8dup
NM_001292028.2:c.203-8dup	NP_001278957.1:n.203-8dup
NM_001374497.1:c.614-8dup	NP_001361426.1:n.614-8dup
NM_001374498.1:c.623-8dup	NP_001361427.1:n.623-8dup
NM_001374499.1:c.296-8dup	NP_001361428.1:n.296-8dup
NM_001374500.1:c.182-8dup	NP_001361429.1:n.182-8dup
NM_001374501.1:c.212-8dup	NP_001361430.1:n.212-8dup
NM_001374502.1:c.212-8dup	NP_001361431.1:n.212-8dup
NM_001374503.1:c.212-8dup	NP_001361432.1:n.212-8dup
NR_164653.1:n.702-8dup
NR_164654.1:n.890-8dup