Linked Data
dbSNP Id:
rs782512984
gnomAD v4:
9-133454389-CTCTCTGGGGTCT-C
MyVariant Identifiers:
chr9:g.133454390_133454401del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454395_133454406del , CM000671.2:g.133454395_133454406del | GRCh38 |
| NC_000009.10:g.135309338_135309349del | NCBI36 |
| NG_011934.2:g.45057_45068del , LRG_544:g.45057_45068del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3045-20_3045-9del MANE Select | ENSP00000347927.2:n.3045-20_3045-9del | |
| ENST00000355699.6:c.3045-20_3045-9del | ENSP00000347927.2:n.3045-20_3045-9del | |
| ENST00000356589.6:c.2952-20_2952-9del | ENSP00000348997.2:n.2952-20_2952-9del | |
| ENST00000371916.5:c.*514-20_*514-9del | ENSP00000360984.2:n.*514-20_*514-9del | |
| ENST00000371929.7:c.3045-20_3045-9del | ENSP00000360997.3:n.3045-20_3045-9del | |
| ENST00000485925.5:n.1861-20_1861-9del | ||
| NM_139025.4:c.3045-20_3045-9del , LRG_544t1:c.3045-20_3045-9del | NP_620594.1:n.3045-20_3045-9del | |
| NM_139026.4:c.2952-20_2952-9del | NP_620595.1:n.2952-20_2952-9del | |
| NM_139027.4:c.3045-20_3045-9del | NP_620596.2:n.3045-20_3045-9del | |
| NR_024514.2:n.1880-20_1880-9del | ||
| XM_011518174.1:c.2655-20_2655-9del | XP_011516476.1:n.2655-20_2655-9del | |
| XM_011518175.1:c.3045-20_3045-9del | XP_011516477.1:n.3045-20_3045-9del | |
| XM_011518176.1:c.2061-20_2061-9del | XP_011516478.1:n.2061-20_2061-9del | |
| XM_011518177.1:c.2055-20_2055-9del | XP_011516479.1:n.2055-20_2055-9del | |
| XM_011518178.1:c.1710-20_1710-9del | XP_011516480.1:n.1710-20_1710-9del | |
| XM_011518179.1:c.1710-20_1710-9del | XP_011516481.1:n.1710-20_1710-9del | |
| XM_011518180.1:c.1311-20_1311-9del | XP_011516482.1:n.1311-20_1311-9del | |
| XM_011518176.3:c.2061-20_2061-9del | XP_011516478.1:n.2061-20_2061-9del | |
| XM_011518178.2:c.1710-20_1710-9del | XP_011516480.1:n.1710-20_1710-9del | |
| XM_017014232.1:c.3033-20_3033-9del | XP_016869721.1:n.3033-20_3033-9del | |
| XM_017014233.1:c.2655-20_2655-9del | XP_016869722.1:n.2655-20_2655-9del | |
| XM_017014234.2:c.2055-20_2055-9del | XP_016869723.1:n.2055-20_2055-9del | |
| XR_001746171.1:n.3818-20_3818-9del | ||
| NM_139026.5:c.2952-20_2952-9del | NP_620595.1:n.2952-20_2952-9del | |
| NM_139027.5:c.3045-20_3045-9del | NP_620596.2:n.3045-20_3045-9del | |
| NM_139025.5:c.3045-20_3045-9del | NP_620594.1:n.3045-20_3045-9del | |
| NM_139026.6:c.2952-20_2952-9del | NP_620595.1:n.2952-20_2952-9del | |
| NM_139027.6:c.3045-20_3045-9del MANE Select | NP_620596.2:n.3045-20_3045-9del | |
| NR_024514.3:n.1882-20_1882-9del |