Canonical Allele Identifier: CA212888
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI

Linked Data

ClinVar Variation Id: 8185
ClinVar RCV Id: RCV000008667
dbSNP Id: rs796065305
ExAC: 3:46415285 GC / G
gnomAD v2: 3-46415285-GC-G
gnomAD v3: 3-46373794-GC-G
gnomAD v4: 3-46373794-GC-G
MyVariant Identifiers: chr3:g.46415287del (hg19) chr3:g.46415286del (hg19) chr3:g.46373796del (hg38) chr3:g.46373795del (hg38)
PubMed: PMID:9207783
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373796del , CM000665.2:g.46373796del GRCh38
NC_000003.11:g.46415287del , CM000665.1:g.46415287del GRCh37
NC_000003.10:g.46390291del NCBI36
NG_012637.1:g.8655del

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.894del (CCR5) MANE Select ENSP00000292303.4:p.Phe299LeufsTer11
ENST00000292303.4:c.894del (CCR5) ENSP00000292303.4:p.Phe299LeufsTer11
ENST00000445772.1:c.894del (CCR5) ENSP00000404881.1:p.Phe299LeufsTer11
NM_000579.3:c.894del (CCR5) NP_000570.1:p.Phe299LeufsTer11
NM_001100168.1:c.894del (CCR5) NP_001093638.1:p.Phe299LeufsTer11
NR_125406.1:n.392-2378del (CCR5AS)
NM_000579.4:c.894del (CCR5) NP_000570.1:p.Phe299LeufsTer11
NM_001100168.2:c.894del (CCR5) NP_001093638.1:p.Phe299LeufsTer11
NM_001394783.1:c.894del (CCR5) MANE Select NP_001381712.1:p.Phe299LeufsTer11
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