Canonical Allele Identifier: CA2672714480

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493159-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493161del , CM000666.2:g.174493161del	GRCh38
NC_000004.11:g.175414312del , CM000666.1:g.175414312del	GRCh37
NC_000004.10:g.175650887del	NCBI36
NG_011689.1:g.34482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.653del MANE Select	ENSP00000296522.6:p.Gly218GlufsTer7
ENST00000296521.11:c.499-1066del	ENSP00000296521.7:n.499-1066del
ENST00000296522.10:c.653del	ENSP00000296522.6:p.Gly218GlufsTer7
ENST00000422112.6:c.449del	ENSP00000398720.2:p.Gly150GlufsTer7
ENST00000506910.5:c.290del	ENSP00000423066.1:p.Gly97GlufsTer?
ENST00000508330.5:c.*282del	ENSP00000425741.1:n.*282del
ENST00000509512.1:n.302del
ENST00000510835.5:c.*415del	ENSP00000427699.1:n.*415del
ENST00000510901.5:c.290del	ENSP00000422418.1:p.Gly97GlufsTer7
ENST00000511499.5:n.437del
ENST00000514584.5:c.290del	ENSP00000423110.1:p.Gly97=
ENST00000541923.5:c.290del	ENSP00000438017.1:p.Gly97GlufsTer7
ENST00000542498.5:c.422-1066del	ENSP00000443644.1:n.422-1066del
NM_000860.5:c.653del	NP_000851.2:p.Gly218GlufsTer7
NM_001145816.2:c.499-1066del	NP_001139288.1:n.499-1066del
NM_001256301.1:c.290del	NP_001243230.1:p.Gly97GlufsTer7
NM_001256305.1:c.422-1066del	NP_001243234.1:n.422-1066del
NM_001256306.1:c.449del	NP_001243235.1:p.Gly150GlufsTer7
NM_001256307.1:c.290del	NP_001243236.1:p.Gly97GlufsTer7
NM_000860.6:c.653del MANE Select	NP_000851.2:p.Gly218GlufsTer7
NM_001145816.3:c.499-1066del	NP_001139288.1:n.499-1066del
NM_001256305.2:c.422-1066del	NP_001243234.1:n.422-1066del
NM_001256306.2:c.449del	NP_001243235.1:p.Gly150GlufsTer7
NM_001256307.2:c.290del	NP_001243236.1:p.Gly97GlufsTer7