MyVariant.info:
GRCh38
chr3:g.46373456_46373487del
GRCh38
chr3:g.46373454_46373485del
GRCh38
chr3:g.46373453_46373484del
GRCh37
chr3:g.46414947_46414978del
GRCh37
chr3:g.46414944_46414975del
gnomAD v4:
Joint Max Group AF
0.11387796 (NFE)
Genomes Max Group AF
0.10514708 (NFE)
Exomes Max Group AF
0.1143008 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373456_46373487del , CM000665.2:g.46373456_46373487del | GRCh38 |
| NC_000003.11:g.46414947_46414978del , CM000665.1:g.46414947_46414978del | GRCh37 |
| NC_000003.10:g.46389951_46389982del | NCBI36 |
| NG_012637.1:g.8315_8346del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.554_585del (CCR5) MANE Select | ENSP00000292303.4:p.Ser185IlefsTer? | |
| ENST00000292303.4:c.554_585del (CCR5) | ENSP00000292303.4:p.Ser185IlefsTer? | |
| ENST00000445772.1:c.554_585del (CCR5) | ENSP00000404881.1:p.Ser185IlefsTer? | |
| NM_000579.3:c.554_585del (CCR5) | NP_000570.1:p.Ser185IlefsTer? | |
| NM_001100168.1:c.554_585del (CCR5) | NP_001093638.1:p.Ser185IlefsTer? | |
| NR_125406.1:n.392-2067_392-2036del (CCR5AS) | ||
| NM_000579.4:c.554_585del (CCR5) | NP_000570.1:p.Ser185IlefsTer? | |
| NM_001100168.2:c.554_585del (CCR5) | NP_001093638.1:p.Ser185IlefsTer? | |
| NM_001394783.1:c.554_585del (CCR5) MANE Select | NP_001381712.1:p.Ser185IlefsTer? |