Canonical Allele Identifier: CA10620477

Gene: HPGD

Linked Data

• ClinVar Variation Id: 348189
• ClinVar RCV Id: RCV000291238 ; RCV000385638
• dbSNP Id: rs45618536
• gnomAD v2: 4-175412497-GTCAA-G
• gnomAD v3: 4-174491346-GTCAA-G
• gnomAD v4: 4-174491346-GTCAA-G
• MyVariant Identifiers: chr4:g.175412498_175412501del (hg19) ; chr4:g.174491347_174491350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174491350_174491353del , CM000666.2:g.174491350_174491353del	GRCh38
NC_000004.11:g.175412501_175412504del , CM000666.1:g.175412501_175412504del	GRCh37
NC_000004.10:g.175649076_175649079del	NCBI36
NG_011689.1:g.36292_36295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.*606_*609del MANE Select	ENSP00000296522.6:n.*606_*609del
ENST00000296522.10:c.*606_*609del	ENSP00000296522.6:n.*606_*609del
ENST00000510835.5:c.*1169_*1172del	ENSP00000427699.1:n.*1169_*1172del
ENST00000541923.5:c.*606_*609del	ENSP00000438017.1:n.*606_*609del
ENST00000542498.5:c.*734_*737del	ENSP00000443644.1:n.*734_*737del
NM_000860.5:c.*606_*609del	NP_000851.2:n.*606_*609del
NM_001145816.2:c.*706_*709del	NP_001139288.1:n.*706_*709del
NM_001256301.1:c.*606_*609del	NP_001243230.1:n.*606_*609del
NM_001256305.1:c.*734_*737del	NP_001243234.1:n.*734_*737del
NM_001256306.1:c.*606_*609del	NP_001243235.1:n.*606_*609del
NM_001256307.1:c.*606_*609del	NP_001243236.1:n.*606_*609del
NM_000860.6:c.*606_*609del MANE Select	NP_000851.2:n.*606_*609del
NM_001145816.3:c.*706_*709del	NP_001139288.1:n.*706_*709del
NM_001256305.2:c.*734_*737del	NP_001243234.1:n.*734_*737del
NM_001256306.2:c.*606_*609del	NP_001243235.1:n.*606_*609del
NM_001256307.2:c.*606_*609del	NP_001243236.1:n.*606_*609del