Canonical Allele Identifier: CA802764658

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1470642153
• gnomAD v3: 5-119479293-ATAT-A
• gnomAD v4: 5-119479293-ATAT-A
• MyVariant Identifiers: chr5:g.118814989_118814991del (hg19) ; chr5:g.119479294_119479296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479295_119479297del , CM000667.2:g.119479295_119479297del	GRCh38
NC_000005.9:g.118814990_118814992del , CM000667.1:g.118814990_118814992del	GRCh37
NC_000005.8:g.118842889_118842891del	NCBI36
NG_008182.1:g.31843_31845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.622+274_622+276del	ENSP00000426272.2:n.622+274_622+276del
ENST00000518349.6:c.113-17248_113-17246del	ENSP00000507185.1:n.113-17248_113-17246del
ENST00000682445.1:c.*503+274_*503+276del	ENSP00000508061.1:n.*503+274_*503+276del
ENST00000682531.1:n.723+274_723+276del
ENST00000682626.1:c.*128+274_*128+276del	ENSP00000507857.1:n.*128+274_*128+276del
ENST00000682996.1:c.622+274_622+276del	ENSP00000507792.1:n.622+274_622+276del
ENST00000683265.1:n.715+274_715+276del
ENST00000683371.1:c.*752+274_*752+276del	ENSP00000508376.1:n.*752+274_*752+276del
ENST00000683390.1:n.2312+274_2312+276del
ENST00000683549.1:n.543+274_543+276del
ENST00000683936.1:c.*507+274_*507+276del	ENSP00000507721.1:n.*507+274_*507+276del
ENST00000683974.1:n.704+274_704+276del
ENST00000683996.1:c.211+274_211+276del	ENSP00000507060.1:n.211+274_211+276del
ENST00000684131.1:n.461+274_461+276del
ENST00000684160.1:c.*312+274_*312+276del	ENSP00000507821.1:n.*312+274_*312+276del
ENST00000684214.1:c.622+274_622+276del	ENSP00000508071.1:n.622+274_622+276del
ENST00000414835.7:c.697+274_697+276del	ENSP00000411960.3:n.697+274_697+276del
ENST00000510025.7:c.622+274_622+276del MANE Select	ENSP00000424940.3:n.622+274_622+276del
ENST00000643250.1:c.*494+274_*494+276del	ENSP00000494737.1:n.*494+274_*494+276del
ENST00000644146.1:c.*200+274_*200+276del	ENSP00000494808.1:n.*200+274_*200+276del
ENST00000645099.1:c.181+274_181+276del	ENSP00000496091.1:n.181+274_181+276del
ENST00000645702.1:c.211+274_211+276del	ENSP00000496432.1:n.211+274_211+276del
ENST00000645832.1:c.*507+274_*507+276del	ENSP00000494316.1:n.*507+274_*507+276del
ENST00000646058.1:c.622+274_622+276del	ENSP00000493579.1:n.622+274_622+276del
ENST00000646355.1:c.*628+274_*628+276del	ENSP00000493801.1:n.*628+274_*628+276del
ENST00000646554.1:c.*600+274_*600+276del	ENSP00000494542.1:n.*600+274_*600+276del
ENST00000647335.1:c.*589+274_*589+276del	ENSP00000495180.1:n.*589+274_*589+276del
ENST00000647342.1:c.*553+274_*553+276del	ENSP00000494992.1:n.*553+274_*553+276del
ENST00000256216.10:c.622+274_622+276del	ENSP00000256216.6:n.622+274_622+276del
ENST00000414835.6:c.202+274_202+276del	ENSP00000411960.2:n.202+274_202+276del
ENST00000442060.7:c.622+274_622+276del	ENSP00000390208.3:n.622+274_622+276del
ENST00000504811.5:c.697+274_697+276del	ENSP00000420914.1:n.697+274_697+276del
ENST00000505181.5:n.325+274_325+276del
ENST00000509514.5:c.-263+274_-263+276del	ENSP00000426272.1:n.-263+274_-263+276del
ENST00000510025.5:c.550+274_550+276del	ENSP00000424940.1:n.550+274_550+276del
ENST00000512644.1:n.190+274_190+276del
ENST00000513628.5:c.211+274_211+276del	ENSP00000425993.1:n.211+274_211+276del
ENST00000515235.6:n.682+274_682+276del
ENST00000515320.5:c.568+274_568+276del	ENSP00000424613.1:n.568+274_568+276del
NM_000414.3:c.622+274_622+276del	NP_000405.1:n.622+274_622+276del
NM_001199291.2:c.697+274_697+276del	NP_001186220.1:n.697+274_697+276del
NM_001199292.1:c.568+274_568+276del	NP_001186221.1:n.568+274_568+276del
NM_001292027.1:c.550+274_550+276del	NP_001278956.1:n.550+274_550+276del
NM_001292028.1:c.202+274_202+276del	NP_001278957.1:n.202+274_202+276del
NM_000414.4:c.622+274_622+276del MANE Select	NP_000405.1:n.622+274_622+276del
NM_001199291.3:c.697+274_697+276del	NP_001186220.1:n.697+274_697+276del
NM_001199292.2:c.568+274_568+276del	NP_001186221.1:n.568+274_568+276del
NM_001292027.2:c.550+274_550+276del	NP_001278956.1:n.550+274_550+276del
NM_001292028.2:c.202+274_202+276del	NP_001278957.1:n.202+274_202+276del
NM_001374497.1:c.613+274_613+276del	NP_001361426.1:n.613+274_613+276del
NM_001374498.1:c.622+274_622+276del	NP_001361427.1:n.622+274_622+276del
NM_001374499.1:c.295+274_295+276del	NP_001361428.1:n.295+274_295+276del
NM_001374500.1:c.181+274_181+276del	NP_001361429.1:n.181+274_181+276del
NM_001374501.1:c.211+274_211+276del	NP_001361430.1:n.211+274_211+276del
NM_001374502.1:c.211+274_211+276del	NP_001361431.1:n.211+274_211+276del
NM_001374503.1:c.211+274_211+276del	NP_001361432.1:n.211+274_211+276del
NR_164653.1:n.701+274_701+276del
NR_164654.1:n.889+274_889+276del