Canonical Allele Identifier: CA543041127
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI

Linked Data

dbSNP Id: rs1343519561
gnomAD v2: 3-46415168-AC-A
gnomAD v3: 3-46373677-AC-A
gnomAD v4: 3-46373677-AC-A
MyVariant Identifiers: chr3:g.46415169del (hg19) chr3:g.46373678del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373679del , CM000665.2:g.46373679del GRCh38
NC_000003.11:g.46415170del , CM000665.1:g.46415170del GRCh37
NC_000003.10:g.46390174del NCBI36
NG_012637.1:g.8538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.777del (CCR5) MANE Select ENSP00000292303.4:p.Phe260SerfsTer7
ENST00000292303.4:c.777del (CCR5) ENSP00000292303.4:p.Phe260SerfsTer7
ENST00000445772.1:c.777del (CCR5) ENSP00000404881.1:p.Phe260SerfsTer7
NM_000579.3:c.777del (CCR5) NP_000570.1:p.Phe260SerfsTer7
NM_001100168.1:c.777del (CCR5) NP_001093638.1:p.Phe260SerfsTer7
NR_125406.1:n.392-2261del (CCR5AS)
NM_000579.4:c.777del (CCR5) NP_000570.1:p.Phe260SerfsTer7
NM_001100168.2:c.777del (CCR5) NP_001093638.1:p.Phe260SerfsTer7
NM_001394783.1:c.777del (CCR5) MANE Select NP_001381712.1:p.Phe260SerfsTer7
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