Canonical Allele Identifier: CA1514328771

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493164_174493165delinsAG , CM000666.2:g.174493164_174493165delinsAG	GRCh38
NC_000004.11:g.175414315_175414316delinsAG , CM000666.1:g.175414315_175414316delinsAG	GRCh37
NC_000004.10:g.175650890_175650891delinsAG	NCBI36
NG_011689.1:g.34477_34478delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.648_649delinsCT MANE Select	ENSP00000296522.6:p.Tyr216=
ENST00000296521.11:c.499-1071_499-1070delinsCT	ENSP00000296521.7:n.499-1071_499-1070delinsCT
ENST00000296522.10:c.648_649delinsCT	ENSP00000296522.6:p.Tyr216=
ENST00000422112.6:c.444_445delinsCT	ENSP00000398720.2:p.Tyr148=
ENST00000506910.5:c.285_286delinsCT	ENSP00000423066.1:p.Tyr95=
ENST00000508330.5:c.*277_*278delinsCT	ENSP00000425741.1:n.*277_*278delinsCT
ENST00000509512.1:n.297_298delinsCT
ENST00000510835.5:c.*410_*411delinsCT	ENSP00000427699.1:n.*410_*411delinsCT
ENST00000510901.5:c.285_286delinsCT	ENSP00000422418.1:p.Tyr95=
ENST00000511499.5:n.432_433delinsCT
ENST00000514584.5:c.285_286delinsCT	ENSP00000423110.1:p.Tyr95=
ENST00000541923.5:c.285_286delinsCT	ENSP00000438017.1:p.Tyr95=
ENST00000542498.5:c.422-1071_422-1070delinsCT	ENSP00000443644.1:n.422-1071_422-1070delinsCT
NM_000860.5:c.648_649delinsCT	NP_000851.2:p.Tyr216=
NM_001145816.2:c.499-1071_499-1070delinsCT	NP_001139288.1:n.499-1071_499-1070delinsCT
NM_001256301.1:c.285_286delinsCT	NP_001243230.1:p.Tyr95=
NM_001256305.1:c.422-1071_422-1070delinsCT	NP_001243234.1:n.422-1071_422-1070delinsCT
NM_001256306.1:c.444_445delinsCT	NP_001243235.1:p.Tyr148=
NM_001256307.1:c.285_286delinsCT	NP_001243236.1:p.Tyr95=
NM_000860.6:c.648_649delinsCT MANE Select	NP_000851.2:p.Tyr216=
NM_001145816.3:c.499-1071_499-1070delinsCT	NP_001139288.1:n.499-1071_499-1070delinsCT
NM_001256305.2:c.422-1071_422-1070delinsCT	NP_001243234.1:n.422-1071_422-1070delinsCT
NM_001256306.2:c.444_445delinsCT	NP_001243235.1:p.Tyr148=
NM_001256307.2:c.285_286delinsCT	NP_001243236.1:p.Tyr95=