Canonical Allele Identifier: CA125915212

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1043176215
• gnomAD v2: 5-118788243-C-CGT
• gnomAD v4: 5-119452548-C-CGT
• MyVariant Identifiers: chr5:g.118788243_118788244insGT (hg19) ; chr5:g.119452548_119452549insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452557_119452558dup , CM000667.2:g.119452557_119452558dup	GRCh38
NC_000005.9:g.118788252_118788253dup , CM000667.1:g.118788252_118788253dup	GRCh37
NC_000005.8:g.118816151_118816152dup	NCBI36
NG_008182.1:g.5105_5106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.-19_-18dup	ENSP00000426272.2:n.-19_-18dup
ENST00000512841.6:n.23_24dup
ENST00000518349.6:c.-19_-18dup	ENSP00000507185.1:n.-19_-18dup
ENST00000682445.1:c.-19_-18dup	ENSP00000508061.1:n.-19_-18dup
ENST00000682996.1:c.-19_-18dup	ENSP00000507792.1:n.-19_-18dup
ENST00000683371.1:c.-19_-18dup	ENSP00000508376.1:n.-19_-18dup
ENST00000683390.1:n.30_31dup
ENST00000683936.1:c.-19_-18dup	ENSP00000507721.1:n.-19_-18dup
ENST00000683974.1:n.64_65dup
ENST00000684214.1:c.-19_-18dup	ENSP00000508071.1:n.-19_-18dup
ENST00000414835.7:c.-197_-196dup	ENSP00000411960.3:n.-197_-196dup
ENST00000510025.7:c.-19_-18dup MANE Select	ENSP00000424940.3:n.-19_-18dup
ENST00000644146.1:c.-19_-18dup	ENSP00000494808.1:n.-19_-18dup
ENST00000645832.1:c.-19_-18dup	ENSP00000494316.1:n.-19_-18dup
ENST00000646058.1:c.-19_-18dup	ENSP00000493579.1:n.-19_-18dup
ENST00000646590.1:c.-19_-18dup	ENSP00000494892.1:n.-19_-18dup
ENST00000256216.10:c.-19_-18dup	ENSP00000256216.6:n.-19_-18dup
ENST00000442060.7:c.-19_-18dup	ENSP00000390208.3:n.-19_-18dup
ENST00000510025.5:c.-156_-155dup	ENSP00000424940.1:n.-156_-155dup
ENST00000511186.5:n.85_86dup
ENST00000515235.6:n.42_43dup
ENST00000515320.5:c.-19_-18dup	ENSP00000424613.1:n.-19_-18dup
NM_000414.3:c.-19_-18dup	NP_000405.1:n.-19_-18dup
NM_001199291.2:c.-197_-196dup	NP_001186220.1:n.-197_-196dup
NM_001199292.1:c.-19_-18dup	NP_001186221.1:n.-19_-18dup
NM_001292027.1:c.-156_-155dup	NP_001278956.1:n.-156_-155dup
NM_001292028.1:c.-618_-617dup	NP_001278957.1:n.-618_-617dup
NM_000414.4:c.-19_-18dup MANE Select	NP_000405.1:n.-19_-18dup
NM_001199291.3:c.-197_-196dup	NP_001186220.1:n.-197_-196dup
NM_001199292.2:c.-19_-18dup	NP_001186221.1:n.-19_-18dup
NM_001292027.2:c.-156_-155dup	NP_001278956.1:n.-156_-155dup
NM_001292028.2:c.-618_-617dup	NP_001278957.1:n.-618_-617dup
NM_001374497.1:c.-19_-18dup	NP_001361426.1:n.-19_-18dup
NM_001374498.1:c.-19_-18dup	NP_001361427.1:n.-19_-18dup
NM_001374499.1:c.-552_-551dup	NP_001361428.1:n.-552_-551dup
NM_001374500.1:c.-745_-744dup	NP_001361429.1:n.-745_-744dup
NM_001374501.1:c.-618_-617dup	NP_001361430.1:n.-618_-617dup
NM_001374502.1:c.-623_-622dup	NP_001361431.1:n.-623_-622dup
NM_001374503.1:c.-688_-687dup	NP_001361432.1:n.-688_-687dup
NR_164653.1:n.61_62dup
NR_164654.1:n.61_62dup