Canonical Allele Identifier: CA1514328751
Gene: HPGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493126_174493127delinsAG , CM000666.2:g.174493126_174493127delinsAG GRCh38
NC_000004.11:g.175414277_175414278delinsAG , CM000666.1:g.175414277_175414278delinsAG GRCh37
NC_000004.10:g.175650852_175650853delinsAG NCBI36
NG_011689.1:g.34515_34516delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.662+24_662+25delinsCT MANE Select ENSP00000296522.6:n.662+24_662+25delinsCT
ENST00000296521.11:c.499-1033_499-1032delinsCT ENSP00000296521.7:n.499-1033_499-1032delinsCT
ENST00000296522.10:c.662+24_662+25delinsCT ENSP00000296522.6:n.662+24_662+25delinsCT
ENST00000422112.6:c.458+24_458+25delinsCT ENSP00000398720.2:n.458+24_458+25delinsCT
ENST00000508330.5:c.*291+24_*291+25delinsCT ENSP00000425741.1:n.*291+24_*291+25delinsCT
ENST00000509512.1:n.311+24_311+25delinsCT
ENST00000510835.5:c.*424+24_*424+25delinsCT ENSP00000427699.1:n.*424+24_*424+25delinsCT
ENST00000510901.5:c.299+24_299+25delinsCT ENSP00000422418.1:n.299+24_299+25delinsCT
ENST00000511499.5:n.446+24_446+25delinsCT
ENST00000541923.5:c.299+24_299+25delinsCT ENSP00000438017.1:n.299+24_299+25delinsCT
ENST00000542498.5:c.422-1033_422-1032delinsCT ENSP00000443644.1:n.422-1033_422-1032delinsCT
NM_000860.5:c.662+24_662+25delinsCT NP_000851.2:n.662+24_662+25delinsCT
NM_001145816.2:c.499-1033_499-1032delinsCT NP_001139288.1:n.499-1033_499-1032delinsCT
NM_001256301.1:c.299+24_299+25delinsCT NP_001243230.1:n.299+24_299+25delinsCT
NM_001256305.1:c.422-1033_422-1032delinsCT NP_001243234.1:n.422-1033_422-1032delinsCT
NM_001256306.1:c.458+24_458+25delinsCT NP_001243235.1:n.458+24_458+25delinsCT
NM_001256307.1:c.299+24_299+25delinsCT NP_001243236.1:n.299+24_299+25delinsCT
NM_000860.6:c.662+24_662+25delinsCT MANE Select NP_000851.2:n.662+24_662+25delinsCT
NM_001145816.3:c.499-1033_499-1032delinsCT NP_001139288.1:n.499-1033_499-1032delinsCT
NM_001256305.2:c.422-1033_422-1032delinsCT NP_001243234.1:n.422-1033_422-1032delinsCT
NM_001256306.2:c.458+24_458+25delinsCT NP_001243235.1:n.458+24_458+25delinsCT
NM_001256307.2:c.299+24_299+25delinsCT NP_001243236.1:n.299+24_299+25delinsCT