Canonical Allele Identifier: CA2695204007

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493288_174493289del , CM000666.2:g.174493288_174493289del	GRCh38
NC_000004.11:g.175414439_175414440del , CM000666.1:g.175414439_175414440del	GRCh37
NC_000004.10:g.175651014_175651015del	NCBI36
NG_011689.1:g.34356_34357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.527_528del MANE Select	ENSP00000296522.6:p.Val176GlufsTer11
ENST00000296521.11:c.499-1192_499-1191del	ENSP00000296521.7:n.499-1192_499-1191del
ENST00000296522.10:c.527_528del	ENSP00000296522.6:p.Val176GlufsTer11
ENST00000422112.6:c.323_324del	ENSP00000398720.2:p.Val108GlufsTer11
ENST00000506910.5:c.164_165del	ENSP00000423066.1:p.Val55GlufsTer11
ENST00000508330.5:c.*156_*157del	ENSP00000425741.1:n.*156_*157del
ENST00000509512.1:n.176_177del
ENST00000510835.5:c.*289_*290del	ENSP00000427699.1:n.*289_*290del
ENST00000510901.5:c.164_165del	ENSP00000422418.1:p.Val55GlufsTer11
ENST00000511499.5:n.311_312del
ENST00000514584.5:c.164_165del	ENSP00000423110.1:p.Val55GlufsTer11
ENST00000541923.5:c.164_165del	ENSP00000438017.1:p.Val55GlufsTer11
ENST00000542498.5:c.422-1192_422-1191del	ENSP00000443644.1:n.422-1192_422-1191del
NM_000860.5:c.527_528del	NP_000851.2:p.Val176GlufsTer11
NM_001145816.2:c.499-1192_499-1191del	NP_001139288.1:n.499-1192_499-1191del
NM_001256301.1:c.164_165del	NP_001243230.1:p.Val55GlufsTer11
NM_001256305.1:c.422-1192_422-1191del	NP_001243234.1:n.422-1192_422-1191del
NM_001256306.1:c.323_324del	NP_001243235.1:p.Val108GlufsTer11
NM_001256307.1:c.164_165del	NP_001243236.1:p.Val55GlufsTer11
NM_000860.6:c.527_528del MANE Select	NP_000851.2:p.Val176GlufsTer11
NM_001145816.3:c.499-1192_499-1191del	NP_001139288.1:n.499-1192_499-1191del
NM_001256305.2:c.422-1192_422-1191del	NP_001243234.1:n.422-1192_422-1191del
NM_001256306.2:c.323_324del	NP_001243235.1:p.Val108GlufsTer11
NM_001256307.2:c.164_165del	NP_001243236.1:p.Val55GlufsTer11