Linked Data
ClinVar Variation Id:
402223
ClinVar RCV Id:
RCV000454327
dbSNP Id:
rs1060499780
gnomAD v4:
9-133455575-CG-C
MyVariant Identifiers:
chr9:g.133455576del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133455578del , CM000671.2:g.133455578del | GRCh38 |
| NC_000009.10:g.135310521del | NCBI36 |
| NG_011934.2:g.46240del , LRG_544:g.46240del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.3400+143del MANE Select | ENSP00000347927.2:n.3400+143del | |
| ENST00000355699.6:c.3400+143del | ENSP00000347927.2:n.3400+143del | |
| ENST00000356589.6:c.3307+143del | ENSP00000348997.2:n.3307+143del | |
| ENST00000371916.5:c.*869+143del | ENSP00000360984.2:n.*869+143del | |
| ENST00000371929.7:c.3543del | ENSP00000360997.3:p.Gln1183ArgfsTer? | |
| ENST00000485925.5:n.2216+143del | ||
| NM_139025.4:c.3543del , LRG_544t1:c.3543del | NP_620594.1:p.Gln1183ArgfsTer? | |
| NM_139026.4:c.3307+143del | NP_620595.1:n.3307+143del | |
| NM_139027.4:c.3400+143del | NP_620596.2:n.3400+143del | |
| NR_024514.2:n.2235+143del | ||
| XM_011518174.1:c.3153del | XP_011516476.1:p.Gln1053ArgfsTer? | |
| XM_011518175.1:c.3543del | XP_011516477.1:p.Gln1183ArgfsTer? | |
| XM_011518176.1:c.2559del | XP_011516478.1:p.Gln855ArgfsTer? | |
| XM_011518177.1:c.2553del | XP_011516479.1:p.Gln853ArgfsTer? | |
| XM_011518178.1:c.2208del | XP_011516480.1:p.Gln738ArgfsTer? | |
| XM_011518179.1:c.2208del | XP_011516481.1:p.Gln738ArgfsTer? | |
| XM_011518180.1:c.1809del | XP_011516482.1:p.Gln605ArgfsTer? | |
| XM_011518176.3:c.2559del | XP_011516478.1:p.Gln855ArgfsTer? | |
| XM_011518178.2:c.2208del | XP_011516480.1:p.Gln738ArgfsTer? | |
| XM_017014232.1:c.3531del | XP_016869721.1:p.Gln1179ArgfsTer? | |
| XM_017014233.1:c.3153del | XP_016869722.1:p.Gln1053ArgfsTer? | |
| XM_017014234.2:c.2553del | XP_016869723.1:p.Gln853ArgfsTer? | |
| NM_139026.5:c.3307+143del | NP_620595.1:n.3307+143del | |
| NM_139027.5:c.3400+143del | NP_620596.2:n.3400+143del | |
| NM_139025.5:c.3543del | NP_620594.1:p.Gln1183ArgfsTer? | |
| NM_139026.6:c.3307+143del | NP_620595.1:n.3307+143del | |
| NM_139027.6:c.3400+143del MANE Select | NP_620596.2:n.3400+143del | |
| NR_024514.3:n.2237+143del |