Linked Data
dbSNP Id:
rs1255198569
gnomAD v3:
9-133436993-GC-G
gnomAD v4:
9-133436993-GC-G
MyVariant Identifiers:
chr9:g.133436994del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436996del , CM000671.2:g.133436996del | GRCh38 |
| NC_000009.10:g.135291937del | NCBI36 |
| NG_011934.2:g.27658del , LRG_544:g.27658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1435+41del MANE Select | ENSP00000347927.2:n.1435+41del | |
| ENST00000355699.6:c.1435+41del | ENSP00000347927.2:n.1435+41del | |
| ENST00000356589.6:c.1342+41del | ENSP00000348997.2:n.1342+41del | |
| ENST00000371916.5:c.691+41del | ENSP00000360984.2:n.691+41del | |
| ENST00000371929.7:c.1435+41del | ENSP00000360997.3:n.1435+41del | |
| ENST00000474918.1:c.*239+41del | ENSP00000435305.1:n.*239+41del | |
| ENST00000485925.5:n.974-2370del | ||
| ENST00000495234.5:c.*719+41del | ENSP00000435274.1:n.*719+41del | |
| NM_139025.4:c.1435+41del , LRG_544t1:c.1435+41del | NP_620594.1:n.1435+41del | |
| NM_139026.4:c.1342+41del | NP_620595.1:n.1342+41del | |
| NM_139027.4:c.1435+41del | NP_620596.2:n.1435+41del | |
| NR_024514.2:n.993-2370del | ||
| XM_011518174.1:c.1045+41del | XP_011516476.1:n.1045+41del | |
| XM_011518175.1:c.1435+41del | XP_011516477.1:n.1435+41del | |
| XM_011518176.1:c.451+41del | XP_011516478.1:n.451+41del | |
| XM_011518177.1:c.445+41del | XP_011516479.1:n.445+41del | |
| XM_011518178.1:c.100+41del | XP_011516480.1:n.100+41del | |
| XM_011518179.1:c.221+41del | XP_011516481.1:n.221+41del | |
| XM_011518180.1:c.687-7867del | XP_011516482.1:n.687-7867del | |
| XM_011518176.3:c.451+41del | XP_011516478.1:n.451+41del | |
| XM_011518178.2:c.100+41del | XP_011516480.1:n.100+41del | |
| XM_017014232.1:c.1423+41del | XP_016869721.1:n.1423+41del | |
| XM_017014233.1:c.1045+41del | XP_016869722.1:n.1045+41del | |
| XM_017014234.2:c.445+41del | XP_016869723.1:n.445+41del | |
| XM_017014235.1:c.1435+41del | XP_016869724.1:n.1435+41del | |
| XR_001746171.1:n.2660+41del | ||
| NM_139026.5:c.1342+41del | NP_620595.1:n.1342+41del | |
| NM_139027.5:c.1435+41del | NP_620596.2:n.1435+41del | |
| NM_139025.5:c.1435+41del | NP_620594.1:n.1435+41del | |
| NM_139026.6:c.1342+41del | NP_620595.1:n.1342+41del | |
| NM_139027.6:c.1435+41del MANE Select | NP_620596.2:n.1435+41del | |
| NR_024514.3:n.995-2370del |