Linked Data
dbSNP Id:
rs771203200
ExAC:
8:86240788 AT / A
gnomAD v2:
8-86240788-AT-A
gnomAD v3:
8-85328559-AT-A
gnomAD v4:
8-85328559-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85328560del , CM000670.2:g.85328560del | GRCh38 |
| NC_000008.10:g.86240789del , CM000670.1:g.86240789del | GRCh37 |
| NC_000008.9:g.86428041del | NCBI36 |
| NG_016221.1:g.54554del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523022.6:c.786del MANE Select | ENSP00000429798.1:p.Ter262CysextTer22 | |
| ENST00000431316.3:c.786del | ENSP00000392338.1:p.Ter262CysextTer22 | |
| ENST00000521679.5:c.535del | ||
| ENST00000522389.5:c.384del | ENSP00000427773.1:p.Ter128CysextTer22 | |
| ENST00000523022.5:c.786del | ENSP00000429798.1:p.Ter262CysextTer22 | |
| ENST00000523953.5:c.786del | ENSP00000430656.1:p.Ter262CysextTer22 | |
| ENST00000542576.5:c.786del | ENSP00000443517.1:p.Ter262CysextTer22 | |
| ENST00000626824.1:c.384del | ENSP00000486171.1:p.Ter128CysextTer22 | |
| NM_001128829.3:c.786del | NP_001122301.1:p.Ter262CysextTer22 | |
| NM_001128830.3:c.786del | NP_001122302.1:p.Ter262CysextTer22 | |
| NM_001128831.3:c.786del | NP_001122303.1:p.Ter262CysextTer22 | |
| NM_001164830.1:c.786del | NP_001158302.1:p.Ter262CysextTer22 | |
| NM_001291967.1:c.588del | NP_001278896.1:p.Ter196CysextTer22 | |
| NM_001291968.1:c.447del | NP_001278897.1:p.Ter149CysextTer22 | |
| NM_001738.4:c.786del | NP_001729.1:p.Ter262CysextTer22 | |
| XM_011517584.1:c.786del | XP_011515886.1:p.Ter262CysextTer22 | |
| NM_001128829.4:c.786del | NP_001122301.1:p.Ter262CysextTer22 | |
| NM_001128830.4:c.786del | NP_001122302.1:p.Ter262CysextTer22 | |
| NM_001128831.4:c.786del MANE Select | NP_001122303.1:p.Ter262CysextTer22 | |
| NM_001164830.2:c.786del | NP_001158302.1:p.Ter262CysextTer22 | |
| NM_001291967.2:c.588del | NP_001278896.1:p.Ter196CysextTer22 | |
| NM_001291968.2:c.447del | NP_001278897.1:p.Ter149CysextTer22 | |
| NM_001738.5:c.786del | NP_001729.1:p.Ter262CysextTer22 |