Canonical Allele Identifier: CA2672714478

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493151-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493152_174493153del , CM000666.2:g.174493152_174493153del	GRCh38
NC_000004.11:g.175414303_175414304del , CM000666.1:g.175414303_175414304del	GRCh37
NC_000004.10:g.175650878_175650879del	NCBI36
NG_011689.1:g.34489_34490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.660_661del MANE Select	ENSP00000296522.6:p.Asp221ProfsTer13
ENST00000296521.11:c.499-1059_499-1058del	ENSP00000296521.7:n.499-1059_499-1058del
ENST00000296522.10:c.660_661del	ENSP00000296522.6:p.Asp221ProfsTer13
ENST00000422112.6:c.456_457del	ENSP00000398720.2:p.Asp153ProfsTer13
ENST00000506910.5:c.297_298del	ENSP00000423066.1:p.Leu99=
ENST00000508330.5:c.*289_*290del	ENSP00000425741.1:n.*289_*290del
ENST00000509512.1:n.309_310del
ENST00000510835.5:c.*422_*423del	ENSP00000427699.1:n.*422_*423del
ENST00000510901.5:c.297_298del	ENSP00000422418.1:p.Asp100ProfsTer13
ENST00000511499.5:n.444_445del
ENST00000541923.5:c.297_298del	ENSP00000438017.1:p.Asp100ProfsTer13
ENST00000542498.5:c.422-1059_422-1058del	ENSP00000443644.1:n.422-1059_422-1058del
NM_000860.5:c.660_661del	NP_000851.2:p.Asp221ProfsTer13
NM_001145816.2:c.499-1059_499-1058del	NP_001139288.1:n.499-1059_499-1058del
NM_001256301.1:c.297_298del	NP_001243230.1:p.Asp100ProfsTer13
NM_001256305.1:c.422-1059_422-1058del	NP_001243234.1:n.422-1059_422-1058del
NM_001256306.1:c.456_457del	NP_001243235.1:p.Asp153ProfsTer13
NM_001256307.1:c.297_298del	NP_001243236.1:p.Asp100ProfsTer13
NM_000860.6:c.660_661del MANE Select	NP_000851.2:p.Asp221ProfsTer13
NM_001145816.3:c.499-1059_499-1058del	NP_001139288.1:n.499-1059_499-1058del
NM_001256305.2:c.422-1059_422-1058del	NP_001243234.1:n.422-1059_422-1058del
NM_001256306.2:c.456_457del	NP_001243235.1:p.Asp153ProfsTer13
NM_001256307.2:c.297_298del	NP_001243236.1:p.Asp100ProfsTer13