Canonical Allele Identifier: CA1071127103

Gene: HPGD

Linked Data

• dbSNP Id: rs1734438198
• gnomAD v3: 4-174493384-AG-A
• gnomAD v4: 4-174493384-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493385del , CM000666.2:g.174493385del	GRCh38
NC_000004.11:g.175414536del , CM000666.1:g.175414536del	GRCh37
NC_000004.10:g.175651111del	NCBI36
NG_011689.1:g.34257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.499-71del MANE Select	ENSP00000296522.6:n.499-71del
ENST00000296521.11:c.499-1291del	ENSP00000296521.7:n.499-1291del
ENST00000296522.10:c.499-71del	ENSP00000296522.6:n.499-71del
ENST00000422112.6:c.295-71del	ENSP00000398720.2:n.295-71del
ENST00000506910.5:c.136-71del	ENSP00000423066.1:n.136-71del
ENST00000508330.5:c.*128-71del	ENSP00000425741.1:n.*128-71del
ENST00000509512.1:n.77del
ENST00000510835.5:c.*261-71del	ENSP00000427699.1:n.*261-71del
ENST00000510901.5:c.136-71del	ENSP00000422418.1:n.136-71del
ENST00000511499.5:n.283-71del
ENST00000514584.5:c.136-71del	ENSP00000423110.1:n.136-71del
ENST00000541923.5:c.136-71del	ENSP00000438017.1:n.136-71del
ENST00000542498.5:c.422-1291del	ENSP00000443644.1:n.422-1291del
NM_000860.5:c.499-71del	NP_000851.2:n.499-71del
NM_001145816.2:c.499-1291del	NP_001139288.1:n.499-1291del
NM_001256301.1:c.136-71del	NP_001243230.1:n.136-71del
NM_001256305.1:c.422-1291del	NP_001243234.1:n.422-1291del
NM_001256306.1:c.295-71del	NP_001243235.1:n.295-71del
NM_001256307.1:c.136-71del	NP_001243236.1:n.136-71del
NM_000860.6:c.499-71del MANE Select	NP_000851.2:n.499-71del
NM_001145816.3:c.499-1291del	NP_001139288.1:n.499-1291del
NM_001256305.2:c.422-1291del	NP_001243234.1:n.422-1291del
NM_001256306.2:c.295-71del	NP_001243235.1:n.295-71del
NM_001256307.2:c.136-71del	NP_001243236.1:n.136-71del