Linked Data
dbSNP Id:
rs1405405787
gnomAD v2:
6-150720189-AAAAC-A
gnomAD v3:
6-150399053-AAAAC-A
gnomAD v4:
6-150399053-AAAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150399057_150399060del , CM000668.2:g.150399057_150399060del | GRCh38 |
| NC_000006.11:g.150720193_150720196del , CM000668.1:g.150720193_150720196del | GRCh37 |
| NC_000006.10:g.150761886_150761889del | NCBI36 |
| NG_016007.1:g.35166_35169del | |
| NG_016007.2:g.35166_35169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.*820_*823del MANE Select | ENSP00000343763.4:n.*820_*823del | |
| ENST00000229447.9:c.*920_*923del | ENSP00000229447.5:n.*920_*923del | |
| ENST00000344419.7:c.*820_*823del | ENSP00000343763.3:n.*820_*823del | |
| NM_001164694.1:c.*920_*923del | NP_001158166.1:n.*920_*923del | |
| NM_001164695.1:c.*1007_*1010del | NP_001158167.1:n.*1007_*1010del | |
| NM_203395.2:c.*820_*823del | NP_981932.1:n.*820_*823del | |
| NM_001318495.1:c.*820_*823del | NP_001305424.1:n.*820_*823del | |
| NR_134655.1:n.2003_2006del | ||
| NM_001164694.2:c.*920_*923del | NP_001158166.1:n.*920_*923del | |
| NM_001164695.2:c.*1007_*1010del | NP_001158167.1:n.*1007_*1010del | |
| NM_001318495.2:c.*820_*823del | NP_001305424.1:n.*820_*823del | |
| NM_203395.3:c.*820_*823del MANE Select | NP_981932.1:n.*820_*823del | |
| NR_134655.2:n.1883_1886del |