Linked Data
dbSNP Id:
rs1427585883
gnomAD v3:
9-133454776-GAGAC-G
gnomAD v4:
9-133454776-GAGAC-G
MyVariant Identifiers:
chr9:g.133454777_133454780del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454780_133454783del , CM000671.2:g.133454780_133454783del | GRCh38 |
| NC_000009.10:g.135309723_135309726del | NCBI36 |
| NG_011934.2:g.45442_45445del , LRG_544:g.45442_45445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3249+161_3249+164del MANE Select | ENSP00000347927.2:n.3249+161_3249+164del | |
| ENST00000355699.6:c.3249+161_3249+164del | ENSP00000347927.2:n.3249+161_3249+164del | |
| ENST00000356589.6:c.3156+161_3156+164del | ENSP00000348997.2:n.3156+161_3156+164del | |
| ENST00000371916.5:c.*718+161_*718+164del | ENSP00000360984.2:n.*718+161_*718+164del | |
| ENST00000371929.7:c.3249+161_3249+164del | ENSP00000360997.3:n.3249+161_3249+164del | |
| ENST00000485925.5:n.2065+161_2065+164del | ||
| NM_139025.4:c.3249+161_3249+164del , LRG_544t1:c.3249+161_3249+164del | NP_620594.1:n.3249+161_3249+164del | |
| NM_139026.4:c.3156+161_3156+164del | NP_620595.1:n.3156+161_3156+164del | |
| NM_139027.4:c.3249+161_3249+164del | NP_620596.2:n.3249+161_3249+164del | |
| NR_024514.2:n.2084+161_2084+164del | ||
| XM_011518174.1:c.2859+161_2859+164del | XP_011516476.1:n.2859+161_2859+164del | |
| XM_011518175.1:c.3249+161_3249+164del | XP_011516477.1:n.3249+161_3249+164del | |
| XM_011518176.1:c.2265+161_2265+164del | XP_011516478.1:n.2265+161_2265+164del | |
| XM_011518177.1:c.2259+161_2259+164del | XP_011516479.1:n.2259+161_2259+164del | |
| XM_011518178.1:c.1914+161_1914+164del | XP_011516480.1:n.1914+161_1914+164del | |
| XM_011518179.1:c.1914+161_1914+164del | XP_011516481.1:n.1914+161_1914+164del | |
| XM_011518180.1:c.1515+161_1515+164del | XP_011516482.1:n.1515+161_1515+164del | |
| XM_011518176.3:c.2265+161_2265+164del | XP_011516478.1:n.2265+161_2265+164del | |
| XM_011518178.2:c.1914+161_1914+164del | XP_011516480.1:n.1914+161_1914+164del | |
| XM_017014232.1:c.3237+161_3237+164del | XP_016869721.1:n.3237+161_3237+164del | |
| XM_017014233.1:c.2859+161_2859+164del | XP_016869722.1:n.2859+161_2859+164del | |
| XM_017014234.2:c.2259+161_2259+164del | XP_016869723.1:n.2259+161_2259+164del | |
| NM_139026.5:c.3156+161_3156+164del | NP_620595.1:n.3156+161_3156+164del | |
| NM_139027.5:c.3249+161_3249+164del | NP_620596.2:n.3249+161_3249+164del | |
| NM_139025.5:c.3249+161_3249+164del | NP_620594.1:n.3249+161_3249+164del | |
| NM_139026.6:c.3156+161_3156+164del | NP_620595.1:n.3156+161_3156+164del | |
| NM_139027.6:c.3249+161_3249+164del MANE Select | NP_620596.2:n.3249+161_3249+164del | |
| NR_024514.3:n.2086+161_2086+164del |