Canonical Allele Identifier: CA2764588576
Gene: HPGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493240_174493241insGTC , CM000666.2:g.174493240_174493241insGTC GRCh38
NC_000004.11:g.175414391_175414392insGTC , CM000666.1:g.175414391_175414392insGTC GRCh37
NC_000004.10:g.175650966_175650967insGTC NCBI36
NG_011689.1:g.34401_34402insGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.572_573insGAC MANE Select ENSP00000296522.6:p.Leu191_Glu192insThr
ENST00000296521.11:c.499-1147_499-1146insGAC ENSP00000296521.7:n.499-1147_499-1146insGAC
ENST00000296522.10:c.572_573insGAC ENSP00000296522.6:p.Leu191_Glu192insThr
ENST00000422112.6:c.368_369insGAC ENSP00000398720.2:p.Leu123_Glu124insThr
ENST00000506910.5:c.209_210insGAC ENSP00000423066.1:p.Leu70_Glu71insThr
ENST00000508330.5:c.*201_*202insGAC ENSP00000425741.1:n.*201_*202insGAC
ENST00000509512.1:n.221_222insGAC
ENST00000510835.5:c.*334_*335insGAC ENSP00000427699.1:n.*334_*335insGAC
ENST00000510901.5:c.209_210insGAC ENSP00000422418.1:p.Leu70_Glu71insThr
ENST00000511499.5:n.356_357insGAC
ENST00000514584.5:c.209_210insGAC ENSP00000423110.1:p.Leu70_Glu71insThr
ENST00000541923.5:c.209_210insGAC ENSP00000438017.1:p.Leu70_Glu71insThr
ENST00000542498.5:c.422-1147_422-1146insGAC ENSP00000443644.1:n.422-1147_422-1146insGAC
NM_000860.5:c.572_573insGAC NP_000851.2:p.Leu191_Glu192insThr
NM_001145816.2:c.499-1147_499-1146insGAC NP_001139288.1:n.499-1147_499-1146insGAC
NM_001256301.1:c.209_210insGAC NP_001243230.1:p.Leu70_Glu71insThr
NM_001256305.1:c.422-1147_422-1146insGAC NP_001243234.1:n.422-1147_422-1146insGAC
NM_001256306.1:c.368_369insGAC NP_001243235.1:p.Leu123_Glu124insThr
NM_001256307.1:c.209_210insGAC NP_001243236.1:p.Leu70_Glu71insThr
NM_000860.6:c.572_573insGAC MANE Select NP_000851.2:p.Leu191_Glu192insThr
NM_001145816.3:c.499-1147_499-1146insGAC NP_001139288.1:n.499-1147_499-1146insGAC
NM_001256305.2:c.422-1147_422-1146insGAC NP_001243234.1:n.422-1147_422-1146insGAC
NM_001256306.2:c.368_369insGAC NP_001243235.1:p.Leu123_Glu124insThr
NM_001256307.2:c.209_210insGAC NP_001243236.1:p.Leu70_Glu71insThr