Canonical Allele Identifier: CA556655559

Gene: HPGD

Linked Data

• dbSNP Id: rs1391419409
• gnomAD v2: 4-175414315-AG-A
• gnomAD v4: 4-174493164-AG-A
• MyVariant Identifiers: chr4:g.175414316del (hg19) ; chr4:g.174493165del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493165del , CM000666.2:g.174493165del	GRCh38
NC_000004.11:g.175414316del , CM000666.1:g.175414316del	GRCh37
NC_000004.10:g.175650891del	NCBI36
NG_011689.1:g.34477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.648del MANE Select	ENSP00000296522.6:p.Tyr217MetfsTer8
ENST00000296521.11:c.499-1071del	ENSP00000296521.7:n.499-1071del
ENST00000296522.10:c.648del	ENSP00000296522.6:p.Tyr217MetfsTer8
ENST00000422112.6:c.444del	ENSP00000398720.2:p.Tyr149MetfsTer8
ENST00000506910.5:c.285del	ENSP00000423066.1:p.Tyr96MetfsTer?
ENST00000508330.5:c.*277del	ENSP00000425741.1:n.*277del
ENST00000509512.1:n.297del
ENST00000510835.5:c.*410del	ENSP00000427699.1:n.*410del
ENST00000510901.5:c.285del	ENSP00000422418.1:p.Tyr96MetfsTer8
ENST00000511499.5:n.432del
ENST00000514584.5:c.285del	ENSP00000423110.1:p.Tyr96MetfsTer?
ENST00000541923.5:c.285del	ENSP00000438017.1:p.Tyr96MetfsTer8
ENST00000542498.5:c.422-1071del	ENSP00000443644.1:n.422-1071del
NM_000860.5:c.648del	NP_000851.2:p.Tyr217MetfsTer8
NM_001145816.2:c.499-1071del	NP_001139288.1:n.499-1071del
NM_001256301.1:c.285del	NP_001243230.1:p.Tyr96MetfsTer8
NM_001256305.1:c.422-1071del	NP_001243234.1:n.422-1071del
NM_001256306.1:c.444del	NP_001243235.1:p.Tyr149MetfsTer8
NM_001256307.1:c.285del	NP_001243236.1:p.Tyr96MetfsTer8
NM_000860.6:c.648del MANE Select	NP_000851.2:p.Tyr217MetfsTer8
NM_001145816.3:c.499-1071del	NP_001139288.1:n.499-1071del
NM_001256305.2:c.422-1071del	NP_001243234.1:n.422-1071del
NM_001256306.2:c.444del	NP_001243235.1:p.Tyr149MetfsTer8
NM_001256307.2:c.285del	NP_001243236.1:p.Tyr96MetfsTer8