Linked Data
dbSNP Id:
rs1186495780
gnomAD v2:
22-29095711-AAC-A
gnomAD v3:
22-28699723-AAC-A
gnomAD v4:
22-28699723-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28699729_28699730del , CM000684.2:g.28699729_28699730del | GRCh38 |
| NC_000022.10:g.29095717_29095718del , CM000684.1:g.29095717_29095718del | GRCh37 |
| NC_000022.9:g.27425717_27425718del | NCBI36 |
| NG_008150.1:g.47110_47111del | |
| NG_008150.2:g.47142_47143del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1008+113_1008+114del | ENSP00000518557.1:n.1008+113_1008+114del | |
| ENST00000402731.6:c.807+113_807+114del | ENSP00000384835.2:n.807+113_807+114del | |
| ENST00000404276.6:c.1008+113_1008+114del MANE Select | ENSP00000385747.1:n.1008+113_1008+114del | |
| ENST00000425190.7:c.345+113_345+114del | ENSP00000390244.2:n.345+113_345+114del | |
| ENST00000464581.6:c.348+113_348+114del | ENSP00000483777.2:n.348+113_348+114del | |
| ENST00000648295.1:n.560+113_560+114del | ||
| ENST00000649563.1:c.345+113_345+114del | ENSP00000496928.1:n.345+113_345+114del | |
| ENST00000650281.1:c.1008+113_1008+114del | ENSP00000497000.1:n.1008+113_1008+114del | |
| ENST00000328354.10:c.1008+113_1008+114del | ENSP00000329178.6:n.1008+113_1008+114del | |
| ENST00000348295.7:c.1008+113_1008+114del | ENSP00000329012.5:n.1008+113_1008+114del | |
| ENST00000382580.6:c.1137+113_1137+114del | ENSP00000372023.2:n.1137+113_1137+114del | |
| ENST00000402731.5:c.1008+113_1008+114del | ENSP00000384835.1:n.1008+113_1008+114del | |
| ENST00000403642.5:c.735+113_735+114del | ENSP00000384919.1:n.735+113_735+114del | |
| ENST00000404276.5:c.1008+113_1008+114del | ENSP00000385747.1:n.1008+113_1008+114del | |
| ENST00000405598.5:c.1008+113_1008+114del | ENSP00000386087.1:n.1008+113_1008+114del | |
| ENST00000416671.5:c.*498+113_*498+114del | ENSP00000402225.1:n.*498+113_*498+114del | |
| ENST00000417588.5:c.917+113_917+114del | ENSP00000412901.1:n.917+113_917+114del | |
| ENST00000425190.6:c.345+113_345+114del | ENSP00000390244.1:n.345+113_345+114del | |
| ENST00000433028.6:c.*733+113_*733+114del | ENSP00000403659.1:n.*733+113_*733+114del | |
| ENST00000433728.5:c.946+113_946+114del | ENSP00000404400.1:n.946+113_946+114del | |
| ENST00000434810.5:c.239+113_239+114del | ||
| ENST00000447421.5:c.807+113_807+114del | ENSP00000397478.2:n.807+113_807+114del | |
| ENST00000448511.5:c.898+113_898+114del | ENSP00000404567.1:n.898+113_898+114del | |
| ENST00000456369.5:c.263+113_263+114del | ||
| ENST00000464581.5:c.348+113_348+114del | ENSP00000483777.1:n.348+113_348+114del | |
| ENST00000491919.5:n.565+113_565+114del | ||
| NM_001005735.1:c.1137+113_1137+114del | NP_001005735.1:n.1137+113_1137+114del | |
| NM_001257387.1:c.345+113_345+114del | NP_001244316.1:n.345+113_345+114del | |
| NM_007194.3:c.1008+113_1008+114del | NP_009125.1:n.1008+113_1008+114del | |
| NM_145862.2:c.1008+113_1008+114del | NP_665861.1:n.1008+113_1008+114del | |
| XM_006724114.2:c.528+113_528+114del | XP_006724177.1:n.528+113_528+114del | |
| XM_006724116.2:c.465+113_465+114del | XP_006724179.2:n.465+113_465+114del | |
| XM_011529839.1:c.1167+113_1167+114del | XP_011528141.1:n.1167+113_1167+114del | |
| XM_011529840.1:c.1167+113_1167+114del | XP_011528142.1:n.1167+113_1167+114del | |
| XM_011529841.1:c.936+113_936+114del | XP_011528143.1:n.936+113_936+114del | |
| XM_011529842.1:c.837+113_837+114del | XP_011528144.1:n.837+113_837+114del | |
| XM_011529843.1:c.807+113_807+114del | XP_011528145.1:n.807+113_807+114del | |
| XM_011529844.1:c.1167+113_1167+114del | XP_011528146.1:n.1167+113_1167+114del | |
| XM_011529845.1:c.345+113_345+114del | XP_011528147.1:n.345+113_345+114del | |
| XR_937805.1:n.1167+113_1167+114del | ||
| XR_937806.1:n.1162+113_1162+114del | ||
| XR_937807.1:n.1162+113_1162+114del | ||
| NM_001349956.1:c.807+113_807+114del | NP_001336885.1:n.807+113_807+114del | |
| NM_007194.4:c.1008+113_1008+114del MANE Select | NP_009125.1:n.1008+113_1008+114del | |
| XM_006724114.3:c.561+113_561+114del | XP_006724177.2:n.561+113_561+114del | |
| XM_011529839.2:c.1167+113_1167+114del | XP_011528141.1:n.1167+113_1167+114del | |
| XM_011529840.3:c.1167+113_1167+114del | XP_011528142.1:n.1167+113_1167+114del | |
| XM_011529842.2:c.837+113_837+114del | XP_011528144.1:n.837+113_837+114del | |
| XM_011529844.2:c.1167+113_1167+114del | XP_011528146.1:n.1167+113_1167+114del | |
| XM_011529845.2:c.345+113_345+114del | XP_011528147.1:n.345+113_345+114del | |
| XM_017028560.1:c.1131+113_1131+114del | XP_016884049.1:n.1131+113_1131+114del | |
| XM_017028561.2:c.345+113_345+114del | XP_016884050.1:n.345+113_345+114del | |
| XM_024452148.1:c.1038+113_1038+114del | XP_024307916.1:n.1038+113_1038+114del | |
| XM_024452149.1:c.1038+113_1038+114del | XP_024307917.1:n.1038+113_1038+114del | |
| XR_937805.2:n.1178+113_1178+114del | ||
| XR_937806.2:n.1178+113_1178+114del | ||
| XR_937807.2:n.1178+113_1178+114del | ||
| NM_001005735.2:c.1137+113_1137+114del | NP_001005735.1:n.1137+113_1137+114del | |
| NM_001257387.2:c.345+113_345+114del | NP_001244316.1:n.345+113_345+114del | |
| NM_001349956.2:c.807+113_807+114del | NP_001336885.1:n.807+113_807+114del |