Canonical Allele Identifier: CA562299264

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1178044736
• gnomAD v2: 5-118788332-AG-A
• gnomAD v4: 5-119452637-AG-A
• MyVariant Identifiers: chr5:g.118788333del (hg19) ; chr5:g.119452638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452638del , CM000667.2:g.119452638del	GRCh38
NC_000005.9:g.118788333del , CM000667.1:g.118788333del	GRCh37
NC_000005.8:g.118816232del	NCBI36
NG_008182.1:g.5186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.58+5del	ENSP00000426272.2:n.58+5del
ENST00000512841.6:n.99+5del
ENST00000518349.6:c.58+5del	ENSP00000507185.1:n.58+5del
ENST00000682445.1:c.58+5del	ENSP00000508061.1:n.58+5del
ENST00000682996.1:c.58+5del	ENSP00000507792.1:n.58+5del
ENST00000683371.1:c.58+5del	ENSP00000508376.1:n.58+5del
ENST00000683390.1:n.106+5del
ENST00000683936.1:c.58+5del	ENSP00000507721.1:n.58+5del
ENST00000683974.1:n.140+5del
ENST00000684214.1:c.58+5del	ENSP00000508071.1:n.58+5del
ENST00000414835.7:c.-116del	ENSP00000411960.3:n.-116del
ENST00000510025.7:c.58+5del MANE Select	ENSP00000424940.3:n.58+5del
ENST00000644146.1:c.58+5del	ENSP00000494808.1:n.58+5del
ENST00000645832.1:c.58+5del	ENSP00000494316.1:n.58+5del
ENST00000646058.1:c.58+5del	ENSP00000493579.1:n.58+5del
ENST00000646590.1:c.58+5del	ENSP00000494892.1:n.58+5del
ENST00000256216.10:c.58+5del	ENSP00000256216.6:n.58+5del
ENST00000442060.7:c.58+5del	ENSP00000390208.3:n.58+5del
ENST00000504811.5:c.-116del	ENSP00000420914.1:n.-116del
ENST00000510025.5:c.-80+5del	ENSP00000424940.1:n.-80+5del
ENST00000511186.5:n.161+5del
ENST00000515235.6:n.118+5del
ENST00000515320.5:c.58+5del	ENSP00000424613.1:n.58+5del
ENST00000519184.5:n.69+5del
NM_000414.3:c.58+5del	NP_000405.1:n.58+5del
NM_001199291.2:c.-116del	NP_001186220.1:n.-116del
NM_001199292.1:c.58+5del	NP_001186221.1:n.58+5del
NM_001292027.1:c.-80+5del	NP_001278956.1:n.-80+5del
NM_001292028.1:c.-537del	NP_001278957.1:n.-537del
NM_000414.4:c.58+5del MANE Select	NP_000405.1:n.58+5del
NM_001199291.3:c.-116del	NP_001186220.1:n.-116del
NM_001199292.2:c.58+5del	NP_001186221.1:n.58+5del
NM_001292027.2:c.-80+5del	NP_001278956.1:n.-80+5del
NM_001292028.2:c.-537del	NP_001278957.1:n.-537del
NM_001374497.1:c.58+5del	NP_001361426.1:n.58+5del
NM_001374498.1:c.58+5del	NP_001361427.1:n.58+5del
NM_001374499.1:c.-471del	NP_001361428.1:n.-471del
NM_001374500.1:c.-664del	NP_001361429.1:n.-664del
NM_001374501.1:c.-537del	NP_001361430.1:n.-537del
NM_001374502.1:c.-542del	NP_001361431.1:n.-542del
NM_001374503.1:c.-607del	NP_001361432.1:n.-607del
NR_164653.1:n.137+5del
NR_164654.1:n.142del