Linked Data
dbSNP Id:
rs1416343619
gnomAD v2:
9-107639226-AGAT-A
gnomAD v3:
9-104876945-AGAT-A
gnomAD v4:
9-104876945-AGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104876946_104876948del , CM000671.2:g.104876946_104876948del | GRCh38 |
| NC_000009.11:g.107639227_107639229del , CM000671.1:g.107639227_107639229del | GRCh37 |
| NC_000009.10:g.106679048_106679050del | NCBI36 |
| NG_007981.1:g.56208_56210del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.421+6091_421+6093del MANE Select | ENSP00000363868.3:n.421+6091_421+6093del | |
| ENST00000678995.1:c.421+6091_421+6093del | ENSP00000504612.1:n.421+6091_421+6093del | |
| ENST00000374733.1:c.241+6091_241+6093del | ENSP00000363865.1:n.241+6091_241+6093del | |
| ENST00000374736.7:c.421+6091_421+6093del | ENSP00000363868.3:n.421+6091_421+6093del | |
| ENST00000423487.6:c.421+6091_421+6093del | ENSP00000416623.2:n.421+6091_421+6093del | |
| NM_005502.3:c.421+6091_421+6093del | NP_005493.2:n.421+6091_421+6093del | |
| XM_005251773.1:c.421+6091_421+6093del | XP_005251830.1:n.421+6091_421+6093del | |
| XM_005251776.1:c.241+6091_241+6093del | XP_005251833.1:n.241+6091_241+6093del | |
| XM_011518339.1:c.496+6091_496+6093del | XP_011516641.1:n.496+6091_496+6093del | |
| XM_011518340.1:c.496+6091_496+6093del | XP_011516642.1:n.496+6091_496+6093del | |
| XM_011518341.1:c.496+6091_496+6093del | XP_011516643.1:n.496+6091_496+6093del | |
| XM_011518342.1:c.58+6091_58+6093del | XP_011516644.1:n.58+6091_58+6093del | |
| XM_011518343.1:c.496+6091_496+6093del | XP_011516645.1:n.496+6091_496+6093del | |
| XM_011518344.1:c.496+6091_496+6093del | XP_011516646.1:n.496+6091_496+6093del | |
| XM_005251773.3:c.421+6091_421+6093del | XP_005251830.1:n.421+6091_421+6093del | |
| XM_005251776.3:c.241+6091_241+6093del | XP_005251833.1:n.241+6091_241+6093del | |
| XM_011518339.3:c.496+6091_496+6093del | XP_011516641.1:n.496+6091_496+6093del | |
| XM_011518340.3:c.496+6091_496+6093del | XP_011516642.1:n.496+6091_496+6093del | |
| XM_011518341.3:c.496+6091_496+6093del | XP_011516643.1:n.496+6091_496+6093del | |
| XM_011518342.3:c.58+6091_58+6093del | XP_011516644.1:n.58+6091_58+6093del | |
| XM_011518344.2:c.496+6091_496+6093del | XP_011516646.1:n.496+6091_496+6093del | |
| XM_017014378.2:c.496+6091_496+6093del | XP_016869867.1:n.496+6091_496+6093del | |
| XM_017014379.2:c.496+6091_496+6093del | XP_016869868.1:n.496+6091_496+6093del | |
| XM_017014380.2:c.496+6091_496+6093del | XP_016869869.1:n.496+6091_496+6093del | |
| XM_017014381.2:c.496+6091_496+6093del | XP_016869870.1:n.496+6091_496+6093del | |
| XM_017014382.2:c.358+6091_358+6093del | XP_016869871.1:n.358+6091_358+6093del | |
| XR_001746223.1:n.809+6091_809+6093del | ||
| NM_005502.4:c.421+6091_421+6093del MANE Select | NP_005493.2:n.421+6091_421+6093del |