Canonical Allele Identifier: CA2672714482

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493282-TCTCACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493284_174493289del , CM000666.2:g.174493284_174493289del	GRCh38
NC_000004.11:g.175414435_175414440del , CM000666.1:g.175414435_175414440del	GRCh37
NC_000004.10:g.175651010_175651015del	NCBI36
NG_011689.1:g.34354_34359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.525_530del MANE Select	ENSP00000296522.6:p.Val176_Arg177del
ENST00000296521.11:c.499-1194_499-1189del	ENSP00000296521.7:n.499-1194_499-1189del
ENST00000296522.10:c.525_530del	ENSP00000296522.6:p.Val176_Arg177del
ENST00000422112.6:c.321_326del	ENSP00000398720.2:p.Val108_Arg109del
ENST00000506910.5:c.162_167del	ENSP00000423066.1:p.Val55_Arg56del
ENST00000508330.5:c.*154_*159del	ENSP00000425741.1:n.*154_*159del
ENST00000509512.1:n.174_179del
ENST00000510835.5:c.*287_*292del	ENSP00000427699.1:n.*287_*292del
ENST00000510901.5:c.162_167del	ENSP00000422418.1:p.Val55_Arg56del
ENST00000511499.5:n.309_314del
ENST00000514584.5:c.162_167del	ENSP00000423110.1:p.Val55_Arg56del
ENST00000541923.5:c.162_167del	ENSP00000438017.1:p.Val55_Arg56del
ENST00000542498.5:c.422-1194_422-1189del	ENSP00000443644.1:n.422-1194_422-1189del
NM_000860.5:c.525_530del	NP_000851.2:p.Val176_Arg177del
NM_001145816.2:c.499-1194_499-1189del	NP_001139288.1:n.499-1194_499-1189del
NM_001256301.1:c.162_167del	NP_001243230.1:p.Val55_Arg56del
NM_001256305.1:c.422-1194_422-1189del	NP_001243234.1:n.422-1194_422-1189del
NM_001256306.1:c.321_326del	NP_001243235.1:p.Val108_Arg109del
NM_001256307.1:c.162_167del	NP_001243236.1:p.Val55_Arg56del
NM_000860.6:c.525_530del MANE Select	NP_000851.2:p.Val176_Arg177del
NM_001145816.3:c.499-1194_499-1189del	NP_001139288.1:n.499-1194_499-1189del
NM_001256305.2:c.422-1194_422-1189del	NP_001243234.1:n.422-1194_422-1189del
NM_001256306.2:c.321_326del	NP_001243235.1:p.Val108_Arg109del
NM_001256307.2:c.162_167del	NP_001243236.1:p.Val55_Arg56del