Linked Data
dbSNP Id:
rs1565356446
gnomAD v2:
11-111223111-AGTGACGATG-A
gnomAD v3:
11-111352386-AGTGACGATG-A
gnomAD v4:
11-111352386-AGTGACGATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111352390_111352398del , CM000673.2:g.111352390_111352398del | GRCh38 |
| NC_000011.9:g.111223115_111223123del , CM000673.1:g.111223115_111223123del | GRCh37 |
| NC_000011.8:g.110728325_110728333del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393067.8:c.*1866_*1874del MANE Select | ENSP00000376786.3:n.*1866_*1874del | |
| ENST00000393067.7:c.*1866_*1874del | ENSP00000376786.3:n.*1866_*1874del | |
| NM_006235.2:c.*1866_*1874del | NP_006226.2:n.*1866_*1874del | |
| XM_005271593.1:c.*1866_*1874del | XP_005271650.1:n.*1866_*1874del | |
| XM_005271594.3:c.*1866_*1874del | XP_005271651.1:n.*1866_*1874del | |
| XM_006718859.1:c.*1866_*1874del | XP_006718922.1:n.*1866_*1874del | |
| XM_005271593.2:c.*1866_*1874del | XP_005271650.1:n.*1866_*1874del | |
| XM_006718860.4:c.*4021_*4029del | XP_006718923.1:n.*4021_*4029del | |
| XM_017017932.1:c.*4021_*4029del | XP_016873421.1:n.*4021_*4029del | |
| NM_006235.3:c.*1866_*1874del MANE Select | NP_006226.2:n.*1866_*1874del |