Canonical Allele Identifier: CA2672714484

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493303-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493304_174493305dup , CM000666.2:g.174493304_174493305dup	GRCh38
NC_000004.11:g.175414455_175414456dup , CM000666.1:g.175414455_175414456dup	GRCh37
NC_000004.10:g.175651030_175651031dup	NCBI36
NG_011689.1:g.34337_34338dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.508_509dup MANE Select	ENSP00000296522.6:p.Asn170LysfsTer4
ENST00000296521.11:c.499-1211_499-1210dup	ENSP00000296521.7:n.499-1211_499-1210dup
ENST00000296522.10:c.508_509dup	ENSP00000296522.6:p.Asn170LysfsTer4
ENST00000422112.6:c.304_305dup	ENSP00000398720.2:p.Asn102LysfsTer4
ENST00000506910.5:c.145_146dup	ENSP00000423066.1:p.Asn49LysfsTer4
ENST00000508330.5:c.*137_*138dup	ENSP00000425741.1:n.*137_*138dup
ENST00000509512.1:n.157_158dup
ENST00000510835.5:c.*270_*271dup	ENSP00000427699.1:n.*270_*271dup
ENST00000510901.5:c.145_146dup	ENSP00000422418.1:p.Asn49LysfsTer4
ENST00000511499.5:n.292_293dup
ENST00000514584.5:c.145_146dup	ENSP00000423110.1:p.Asn49LysfsTer4
ENST00000541923.5:c.145_146dup	ENSP00000438017.1:p.Asn49LysfsTer4
ENST00000542498.5:c.422-1211_422-1210dup	ENSP00000443644.1:n.422-1211_422-1210dup
NM_000860.5:c.508_509dup	NP_000851.2:p.Asn170LysfsTer4
NM_001145816.2:c.499-1211_499-1210dup	NP_001139288.1:n.499-1211_499-1210dup
NM_001256301.1:c.145_146dup	NP_001243230.1:p.Asn49LysfsTer4
NM_001256305.1:c.422-1211_422-1210dup	NP_001243234.1:n.422-1211_422-1210dup
NM_001256306.1:c.304_305dup	NP_001243235.1:p.Asn102LysfsTer4
NM_001256307.1:c.145_146dup	NP_001243236.1:p.Asn49LysfsTer4
NM_000860.6:c.508_509dup MANE Select	NP_000851.2:p.Asn170LysfsTer4
NM_001145816.3:c.499-1211_499-1210dup	NP_001139288.1:n.499-1211_499-1210dup
NM_001256305.2:c.422-1211_422-1210dup	NP_001243234.1:n.422-1211_422-1210dup
NM_001256306.2:c.304_305dup	NP_001243235.1:p.Asn102LysfsTer4
NM_001256307.2:c.145_146dup	NP_001243236.1:p.Asn49LysfsTer4