Canonical Allele Identifier: CA1514328710

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493013_174493015delinsCAG , CM000666.2:g.174493013_174493015delinsCAG	GRCh38
NC_000004.11:g.175414164_175414166delinsCAG , CM000666.1:g.175414164_175414166delinsCAG	GRCh37
NC_000004.10:g.175650739_175650741delinsCAG	NCBI36
NG_011689.1:g.34627_34629delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.662+136_662+138delinsCTG MANE Select	ENSP00000296522.6:n.662+136_662+138delinsCTG
ENST00000296521.11:c.499-921_499-919delinsCTG	ENSP00000296521.7:n.499-921_499-919delinsCTG
ENST00000296522.10:c.662+136_662+138delinsCTG	ENSP00000296522.6:n.662+136_662+138delinsCTG
ENST00000422112.6:c.458+136_458+138delinsCTG	ENSP00000398720.2:n.458+136_458+138delinsCTG
ENST00000508330.5:c.*291+136_*291+138delinsCTG	ENSP00000425741.1:n.*291+136_*291+138delinsCTG
ENST00000509512.1:n.311+136_311+138delinsCTG
ENST00000510835.5:c.*424+136_*424+138delinsCTG	ENSP00000427699.1:n.*424+136_*424+138delinsCTG
ENST00000510901.5:c.299+136_299+138delinsCTG	ENSP00000422418.1:n.299+136_299+138delinsCTG
ENST00000511499.5:n.446+136_446+138delinsCTG
ENST00000541923.5:c.299+136_299+138delinsCTG	ENSP00000438017.1:n.299+136_299+138delinsCTG
ENST00000542498.5:c.422-921_422-919delinsCTG	ENSP00000443644.1:n.422-921_422-919delinsCTG
NM_000860.5:c.662+136_662+138delinsCTG	NP_000851.2:n.662+136_662+138delinsCTG
NM_001145816.2:c.499-921_499-919delinsCTG	NP_001139288.1:n.499-921_499-919delinsCTG
NM_001256301.1:c.299+136_299+138delinsCTG	NP_001243230.1:n.299+136_299+138delinsCTG
NM_001256305.1:c.422-921_422-919delinsCTG	NP_001243234.1:n.422-921_422-919delinsCTG
NM_001256306.1:c.458+136_458+138delinsCTG	NP_001243235.1:n.458+136_458+138delinsCTG
NM_001256307.1:c.299+136_299+138delinsCTG	NP_001243236.1:n.299+136_299+138delinsCTG
NM_000860.6:c.662+136_662+138delinsCTG MANE Select	NP_000851.2:n.662+136_662+138delinsCTG
NM_001145816.3:c.499-921_499-919delinsCTG	NP_001139288.1:n.499-921_499-919delinsCTG
NM_001256305.2:c.422-921_422-919delinsCTG	NP_001243234.1:n.422-921_422-919delinsCTG
NM_001256306.2:c.458+136_458+138delinsCTG	NP_001243235.1:n.458+136_458+138delinsCTG
NM_001256307.2:c.299+136_299+138delinsCTG	NP_001243236.1:n.299+136_299+138delinsCTG