Canonical Allele Identifier: CA802755305

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1256825111
• gnomAD v3: 5-119452522-GT-G
• gnomAD v4: 5-119452522-GT-G
• MyVariant Identifiers: chr5:g.118788218del (hg19) ; chr5:g.119452523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452523del , CM000667.2:g.119452523del	GRCh38
NC_000005.9:g.118788218del , CM000667.1:g.118788218del	GRCh37
NC_000005.8:g.118816117del	NCBI36
NG_008182.1:g.5071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.-53del	ENSP00000426272.2:n.-53del
ENST00000518349.6:c.-53del	ENSP00000507185.1:n.-53del
ENST00000682445.1:c.-53del	ENSP00000508061.1:n.-53del
ENST00000682996.1:c.-53del	ENSP00000507792.1:n.-53del
ENST00000683371.1:c.-53del	ENSP00000508376.1:n.-53del
ENST00000683936.1:c.-53del	ENSP00000507721.1:n.-53del
ENST00000683974.1:n.30del
ENST00000684214.1:c.-53del	ENSP00000508071.1:n.-53del
ENST00000414835.7:c.-231del	ENSP00000411960.3:n.-231del
ENST00000510025.7:c.-53del MANE Select	ENSP00000424940.3:n.-53del
ENST00000646058.1:c.-53del	ENSP00000493579.1:n.-53del
ENST00000646590.1:c.-53del	ENSP00000494892.1:n.-53del
ENST00000256216.10:c.-53del	ENSP00000256216.6:n.-53del
ENST00000442060.7:c.-53del	ENSP00000390208.3:n.-53del
ENST00000511186.5:n.51del
ENST00000515235.6:n.8del
ENST00000515320.5:c.-53del	ENSP00000424613.1:n.-53del
NM_000414.3:c.-53del	NP_000405.1:n.-53del
NM_001199291.2:c.-231del	NP_001186220.1:n.-231del
NM_001199292.1:c.-53del	NP_001186221.1:n.-53del
NM_001292027.1:c.-190del	NP_001278956.1:n.-190del
NM_001292028.1:c.-652del	NP_001278957.1:n.-652del
NM_000414.4:c.-53del MANE Select	NP_000405.1:n.-53del
NM_001199291.3:c.-231del	NP_001186220.1:n.-231del
NM_001199292.2:c.-53del	NP_001186221.1:n.-53del
NM_001292027.2:c.-190del	NP_001278956.1:n.-190del
NM_001292028.2:c.-652del	NP_001278957.1:n.-652del
NM_001374497.1:c.-53del	NP_001361426.1:n.-53del
NM_001374498.1:c.-53del	NP_001361427.1:n.-53del
NM_001374499.1:c.-586del	NP_001361428.1:n.-586del
NM_001374500.1:c.-779del	NP_001361429.1:n.-779del
NM_001374501.1:c.-652del	NP_001361430.1:n.-652del
NM_001374502.1:c.-657del	NP_001361431.1:n.-657del
NM_001374503.1:c.-722del	NP_001361432.1:n.-722del
NR_164653.1:n.27del
NR_164654.1:n.27del