Canonical Allele Identifier: CA2707679470

Gene: HPGD

Linked Data

• dbSNP Id: rs2110768957

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493200_174493201dup , CM000666.2:g.174493200_174493201dup	GRCh38
NC_000004.11:g.175414351_175414352dup , CM000666.1:g.175414351_175414352dup	GRCh37
NC_000004.10:g.175650926_175650927dup	NCBI36
NG_011689.1:g.34442_34443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.613_614dup MANE Select	ENSP00000296522.6:p.Tyr206AsnfsTer9
ENST00000296521.11:c.499-1106_499-1105dup	ENSP00000296521.7:n.499-1106_499-1105dup
ENST00000296522.10:c.613_614dup	ENSP00000296522.6:p.Tyr206AsnfsTer9
ENST00000422112.6:c.409_410dup	ENSP00000398720.2:p.Tyr138AsnfsTer9
ENST00000506910.5:c.250_251dup	ENSP00000423066.1:p.Tyr85AsnfsTer9
ENST00000508330.5:c.*242_*243dup	ENSP00000425741.1:n.*242_*243dup
ENST00000509512.1:n.262_263dup
ENST00000510835.5:c.*375_*376dup	ENSP00000427699.1:n.*375_*376dup
ENST00000510901.5:c.250_251dup	ENSP00000422418.1:p.Tyr85AsnfsTer9
ENST00000511499.5:n.397_398dup
ENST00000514584.5:c.250_251dup	ENSP00000423110.1:p.Tyr85AsnfsTer9
ENST00000541923.5:c.250_251dup	ENSP00000438017.1:p.Tyr85AsnfsTer9
ENST00000542498.5:c.422-1106_422-1105dup	ENSP00000443644.1:n.422-1106_422-1105dup
NM_000860.5:c.613_614dup	NP_000851.2:p.Tyr206AsnfsTer9
NM_001145816.2:c.499-1106_499-1105dup	NP_001139288.1:n.499-1106_499-1105dup
NM_001256301.1:c.250_251dup	NP_001243230.1:p.Tyr85AsnfsTer9
NM_001256305.1:c.422-1106_422-1105dup	NP_001243234.1:n.422-1106_422-1105dup
NM_001256306.1:c.409_410dup	NP_001243235.1:p.Tyr138AsnfsTer9
NM_001256307.1:c.250_251dup	NP_001243236.1:p.Tyr85AsnfsTer9
NM_000860.6:c.613_614dup MANE Select	NP_000851.2:p.Tyr206AsnfsTer9
NM_001145816.3:c.499-1106_499-1105dup	NP_001139288.1:n.499-1106_499-1105dup
NM_001256305.2:c.422-1106_422-1105dup	NP_001243234.1:n.422-1106_422-1105dup
NM_001256306.2:c.409_410dup	NP_001243235.1:p.Tyr138AsnfsTer9
NM_001256307.2:c.250_251dup	NP_001243236.1:p.Tyr85AsnfsTer9