Linked Data
dbSNP Id:
rs762164269
ExAC:
11:20649529 TG / T
gnomAD v2:
11-20649529-TG-T
gnomAD v4:
11-20627983-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20627985del , CM000673.2:g.20627985del | GRCh38 |
| NC_000011.9:g.20649531del , CM000673.1:g.20649531del | GRCh37 |
| NC_000011.8:g.20606107del | NCBI36 |
| NG_013086.1:g.33586del | |
| NG_013086.2:g.33586del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1401del MANE Select | ENSP00000434364.2:p.Trp467Ter | |
| ENST00000298923.11:c.*698del | ENSP00000298923.7:n.*698del | |
| ENST00000525748.5:c.1401del | ENSP00000434364.1:p.Trp467Ter | |
| NM_004211.3:c.1401del | NP_004202.2:p.Trp467Ter | |
| XM_005253225.1:c.699del | XP_005253282.1:p.Trp233Ter | |
| XM_011520473.1:c.1401del | XP_011518775.1:p.Trp467Ter | |
| NM_001318369.1:c.699del | NP_001305298.1:p.Trp233Ter | |
| NM_004211.4:c.1401del | NP_004202.3:p.Trp467Ter | |
| XM_017018544.2:c.525del | XP_016874033.1:p.Trp175Ter | |
| XM_017018545.2:c.360del | XP_016874034.1:p.Trp120Ter | |
| NM_001318369.2:c.699del | NP_001305298.1:p.Trp233Ter | |
| NM_004211.5:c.1401del MANE Select | NP_004202.4:p.Trp467Ter |