Linked Data
dbSNP Id:
rs1559568002
gnomAD v2:
3-46414608-T-TGGC
gnomAD v3:
3-46373117-T-TGGC
gnomAD v4:
3-46373117-T-TGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373118_46373120dup , CM000665.2:g.46373118_46373120dup | GRCh38 |
| NC_000003.11:g.46414609_46414611dup , CM000665.1:g.46414609_46414611dup | GRCh37 |
| NC_000003.10:g.46389613_46389615dup | NCBI36 |
| NG_012637.1:g.7977_7979dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.216_218dup (CCR5) MANE Select | ENSP00000292303.4:p.Ala73_Ile74insAla | |
| ENST00000292303.4:c.216_218dup (CCR5) | ENSP00000292303.4:p.Ala73_Ile74insAla | |
| ENST00000445772.1:c.216_218dup (CCR5) | ENSP00000404881.1:p.Ala73_Ile74insAla | |
| NM_000579.3:c.216_218dup (CCR5) | NP_000570.1:p.Ala73_Ile74insAla | |
| NM_001100168.1:c.216_218dup (CCR5) | NP_001093638.1:p.Ala73_Ile74insAla | |
| NR_125406.1:n.392-1703_392-1701dup (CCR5AS) | ||
| NM_000579.4:c.216_218dup (CCR5) | NP_000570.1:p.Ala73_Ile74insAla | |
| NM_001100168.2:c.216_218dup (CCR5) | NP_001093638.1:p.Ala73_Ile74insAla | |
| NM_001394783.1:c.216_218dup (CCR5) MANE Select | NP_001381712.1:p.Ala73_Ile74insAla |