Linked Data
dbSNP Id:
rs759050498
ExAC:
9:14784318 TGTAA / T
gnomAD v2:
9-14784318-TGTAA-T
gnomAD v4:
9-14784320-TGTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14784324_14784327del , CM000671.2:g.14784324_14784327del | GRCh38 |
| NC_000009.11:g.14784322_14784325del , CM000671.1:g.14784322_14784325del | GRCh37 |
| NC_000009.10:g.14774322_14774325del | NCBI36 |
| NG_017005.2:g.130913_130916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380880.4:c.4442+46_4442+49del MANE Select | ENSP00000370262.3:n.4442+46_4442+49del | |
| ENST00000380875.7:c.3981+8419_3981+8422del | ENSP00000370257.3:n.3981+8419_3981+8422del | |
| ENST00000380880.3:c.4442+46_4442+49del | ENSP00000370262.3:n.4442+46_4442+49del | |
| ENST00000422223.6:c.4442+46_4442+49del | ENSP00000412940.2:n.4442+46_4442+49del | |
| ENST00000466679.1:n.472+46_472+49del | ||
| ENST00000485068.5:n.265+46_265+49del | ||
| ENST00000497634.2:n.649_652del | ||
| NM_144966.5:c.4442+46_4442+49del | NP_659403.4:n.4442+46_4442+49del | |
| XM_005251382.2:c.4442+46_4442+49del | XP_005251439.1:n.4442+46_4442+49del | |
| XM_005251384.3:c.-4+46_-4+49del | XP_005251441.1:n.-4+46_-4+49del | |
| XM_006716726.2:c.4442+46_4442+49del | XP_006716789.1:n.4442+46_4442+49del | |
| XM_006716729.2:c.-1+46_-1+49del | XP_006716792.1:n.-1+46_-1+49del | |
| XM_011517748.1:c.4442+46_4442+49del | XP_011516050.1:n.4442+46_4442+49del | |
| XM_011517749.1:c.4442+46_4442+49del | XP_011516051.1:n.4442+46_4442+49del | |
| XM_011517750.1:c.4442+46_4442+49del | XP_011516052.1:n.4442+46_4442+49del | |
| XM_011517751.1:c.4442+46_4442+49del | XP_011516053.1:n.4442+46_4442+49del | |
| XM_011517752.1:c.4442+46_4442+49del | XP_011516054.1:n.4442+46_4442+49del | |
| XM_011517753.1:c.4442+46_4442+49del | XP_011516055.1:n.4442+46_4442+49del | |
| XM_011517754.1:c.4442+46_4442+49del | XP_011516056.1:n.4442+46_4442+49del | |
| XM_011517755.1:c.4442+46_4442+49del | XP_011516057.1:n.4442+46_4442+49del | |
| XM_011517756.1:c.4442+46_4442+49del | XP_011516058.1:n.4442+46_4442+49del | |
| XR_929188.1:n.5228+46_5228+49del | ||
| XR_929487.1:n.89+4307_89+4310del | ||
| XM_005251382.4:c.4442+46_4442+49del | XP_005251439.1:n.4442+46_4442+49del | |
| XM_005251384.4:c.-4+46_-4+49del | XP_005251441.1:n.-4+46_-4+49del | |
| XM_006716729.3:c.-1+46_-1+49del | XP_006716792.1:n.-1+46_-1+49del | |
| XM_017014316.2:c.4469+46_4469+49del | XP_016869805.1:n.4469+46_4469+49del | |
| XM_017014317.1:c.4469+46_4469+49del | XP_016869806.1:n.4469+46_4469+49del | |
| XM_017014319.2:c.4469+46_4469+49del | XP_016869808.1:n.4469+46_4469+49del | |
| XM_017014320.2:c.4469+46_4469+49del | XP_016869809.1:n.4469+46_4469+49del | |
| XM_017014321.2:c.4469+46_4469+49del | XP_016869810.1:n.4469+46_4469+49del | |
| XM_017014322.1:c.4469+46_4469+49del | XP_016869811.1:n.4469+46_4469+49del | |
| XM_017014323.1:c.4469+46_4469+49del | XP_016869812.1:n.4469+46_4469+49del | |
| XM_017014324.2:c.4469+46_4469+49del | XP_016869813.1:n.4469+46_4469+49del | |
| XM_017014325.2:c.4469+46_4469+49del | XP_016869814.1:n.4469+46_4469+49del | |
| XM_017014326.1:c.4061+46_4061+49del | XP_016869815.1:n.4061+46_4061+49del | |
| XM_017014327.2:c.3545+46_3545+49del | XP_016869816.1:n.3545+46_3545+49del | |
| XM_017014328.2:c.4469+46_4469+49del | XP_016869817.1:n.4469+46_4469+49del | |
| XM_017014329.2:c.4469+46_4469+49del | XP_016869818.1:n.4469+46_4469+49del | |
| XR_001746194.2:n.5255+46_5255+49del | ||
| XR_001746195.2:n.5255+46_5255+49del | ||
| XR_001746197.2:n.5251+46_5251+49del | ||
| NR_163238.1:n.4797+8419_4797+8422del | ||
| NR_163239.1:n.5197+46_5197+49del | ||
| NM_001379081.2:c.4442+46_4442+49del MANE Select | NP_001366010.1:n.4442+46_4442+49del | |
| NM_144966.7:c.4442+46_4442+49del | NP_659403.4:n.4442+46_4442+49del | |
| NR_163238.2:n.4797+8419_4797+8422del | ||
| NR_163239.2:n.5197+46_5197+49del |