Canonical Allele Identifier: CA1514328719

Gene: HPGD

Linked Data

• dbSNP Id: rs1734415799

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493048_174493053dup , CM000666.2:g.174493048_174493053dup	GRCh38
NC_000004.11:g.175414199_175414204dup , CM000666.1:g.175414199_175414204dup	GRCh37
NC_000004.10:g.175650774_175650779dup	NCBI36
NG_011689.1:g.34590_34595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.662+99_662+104dup MANE Select	ENSP00000296522.6:n.662+99_662+104dup
ENST00000296521.11:c.499-958_499-953dup	ENSP00000296521.7:n.499-958_499-953dup
ENST00000296522.10:c.662+99_662+104dup	ENSP00000296522.6:n.662+99_662+104dup
ENST00000422112.6:c.458+99_458+104dup	ENSP00000398720.2:n.458+99_458+104dup
ENST00000508330.5:c.*291+99_*291+104dup	ENSP00000425741.1:n.*291+99_*291+104dup
ENST00000509512.1:n.311+99_311+104dup
ENST00000510835.5:c.*424+99_*424+104dup	ENSP00000427699.1:n.*424+99_*424+104dup
ENST00000510901.5:c.299+99_299+104dup	ENSP00000422418.1:n.299+99_299+104dup
ENST00000511499.5:n.446+99_446+104dup
ENST00000541923.5:c.299+99_299+104dup	ENSP00000438017.1:n.299+99_299+104dup
ENST00000542498.5:c.422-958_422-953dup	ENSP00000443644.1:n.422-958_422-953dup
NM_000860.5:c.662+99_662+104dup	NP_000851.2:n.662+99_662+104dup
NM_001145816.2:c.499-958_499-953dup	NP_001139288.1:n.499-958_499-953dup
NM_001256301.1:c.299+99_299+104dup	NP_001243230.1:n.299+99_299+104dup
NM_001256305.1:c.422-958_422-953dup	NP_001243234.1:n.422-958_422-953dup
NM_001256306.1:c.458+99_458+104dup	NP_001243235.1:n.458+99_458+104dup
NM_001256307.1:c.299+99_299+104dup	NP_001243236.1:n.299+99_299+104dup
NM_000860.6:c.662+99_662+104dup MANE Select	NP_000851.2:n.662+99_662+104dup
NM_001145816.3:c.499-958_499-953dup	NP_001139288.1:n.499-958_499-953dup
NM_001256305.2:c.422-958_422-953dup	NP_001243234.1:n.422-958_422-953dup
NM_001256306.2:c.458+99_458+104dup	NP_001243235.1:n.458+99_458+104dup
NM_001256307.2:c.299+99_299+104dup	NP_001243236.1:n.299+99_299+104dup