Canonical Allele Identifier: CA1514328775

Gene: HPGD

Linked Data

• dbSNP Id: rs2081243332

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493170del , CM000666.2:g.174493170del	GRCh38
NC_000004.11:g.175414321del , CM000666.1:g.175414321del	GRCh37
NC_000004.10:g.175650896del	NCBI36
NG_011689.1:g.34474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.645del MANE Select	ENSP00000296522.6:p.Lys215AsnfsTer10
ENST00000296521.11:c.499-1074del	ENSP00000296521.7:n.499-1074del
ENST00000296522.10:c.645del	ENSP00000296522.6:p.Lys215AsnfsTer10
ENST00000422112.6:c.441del	ENSP00000398720.2:p.Lys147AsnfsTer10
ENST00000506910.5:c.282del	ENSP00000423066.1:p.Lys94AsnfsTer?
ENST00000508330.5:c.*274del	ENSP00000425741.1:n.*274del
ENST00000509512.1:n.294del
ENST00000510835.5:c.*407del	ENSP00000427699.1:n.*407del
ENST00000510901.5:c.282del	ENSP00000422418.1:p.Lys94AsnfsTer10
ENST00000511499.5:n.429del
ENST00000514584.5:c.282del	ENSP00000423110.1:p.Lys94AsnfsTer?
ENST00000541923.5:c.282del	ENSP00000438017.1:p.Lys94AsnfsTer10
ENST00000542498.5:c.422-1074del	ENSP00000443644.1:n.422-1074del
NM_000860.5:c.645del	NP_000851.2:p.Lys215AsnfsTer10
NM_001145816.2:c.499-1074del	NP_001139288.1:n.499-1074del
NM_001256301.1:c.282del	NP_001243230.1:p.Lys94AsnfsTer10
NM_001256305.1:c.422-1074del	NP_001243234.1:n.422-1074del
NM_001256306.1:c.441del	NP_001243235.1:p.Lys147AsnfsTer10
NM_001256307.1:c.282del	NP_001243236.1:p.Lys94AsnfsTer10
NM_000860.6:c.645del MANE Select	NP_000851.2:p.Lys215AsnfsTer10
NM_001145816.3:c.499-1074del	NP_001139288.1:n.499-1074del
NM_001256305.2:c.422-1074del	NP_001243234.1:n.422-1074del
NM_001256306.2:c.441del	NP_001243235.1:p.Lys147AsnfsTer10
NM_001256307.2:c.282del	NP_001243236.1:p.Lys94AsnfsTer10