Linked Data
dbSNP Id:
rs751807808
ExAC:
22:29091902 T / TA
gnomAD v2:
22-29091902-T-TA
gnomAD v4:
22-28695914-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695918dup , CM000684.2:g.28695918dup | GRCh38 |
| NC_000022.10:g.29091906dup , CM000684.1:g.29091906dup | GRCh37 |
| NC_000022.9:g.27421906dup | NCBI36 |
| NG_008150.1:g.50920dup | |
| NG_008150.2:g.50952dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-673dup | ENSP00000518557.1:n.1009-673dup | |
| ENST00000402731.6:c.895-42dup | ENSP00000384835.2:n.895-42dup | |
| ENST00000404276.6:c.1096-42dup MANE Select | ENSP00000385747.1:n.1096-42dup | |
| ENST00000425190.7:c.433-42dup | ENSP00000390244.2:n.433-42dup | |
| ENST00000464581.6:c.436-42dup | ENSP00000483777.2:n.436-42dup | |
| ENST00000648295.1:n.648-42dup | ||
| ENST00000649563.1:c.433-42dup | ENSP00000496928.1:n.433-42dup | |
| ENST00000650281.1:c.1096-42dup | ENSP00000497000.1:n.1096-42dup | |
| ENST00000328354.10:c.1096-42dup | ENSP00000329178.6:n.1096-42dup | |
| ENST00000348295.7:c.1009-42dup | ENSP00000329012.5:n.1009-42dup | |
| ENST00000382580.6:c.1225-42dup | ENSP00000372023.2:n.1225-42dup | |
| ENST00000402731.5:c.1009-42dup | ENSP00000384835.1:n.1009-42dup | |
| ENST00000403642.5:c.823-42dup | ENSP00000384919.1:n.823-42dup | |
| ENST00000404276.5:c.1096-42dup | ENSP00000385747.1:n.1096-42dup | |
| ENST00000405598.5:c.1096-42dup | ENSP00000386087.1:n.1096-42dup | |
| ENST00000416671.5:c.*586-42dup | ENSP00000402225.1:n.*586-42dup | |
| ENST00000417588.5:c.1005-42dup | ENSP00000412901.1:n.1005-42dup | |
| ENST00000433728.5:c.1034-42dup | ENSP00000404400.1:n.1034-42dup | |
| ENST00000434810.5:c.327-42dup | ||
| ENST00000448511.5:c.986-42dup | ENSP00000404567.1:n.986-42dup | |
| ENST00000456369.5:c.263+3923dup | ||
| NM_001005735.1:c.1225-42dup | NP_001005735.1:n.1225-42dup | |
| NM_001257387.1:c.433-42dup | NP_001244316.1:n.433-42dup | |
| NM_007194.3:c.1096-42dup | NP_009125.1:n.1096-42dup | |
| NM_145862.2:c.1009-42dup | NP_665861.1:n.1009-42dup | |
| XM_006724114.2:c.616-42dup | XP_006724177.1:n.616-42dup | |
| XM_006724116.2:c.553-42dup | XP_006724179.2:n.553-42dup | |
| XM_011529839.1:c.1255-42dup | XP_011528141.1:n.1255-42dup | |
| XM_011529840.1:c.1168-42dup | XP_011528142.1:n.1168-42dup | |
| XM_011529841.1:c.1024-42dup | XP_011528143.1:n.1024-42dup | |
| XM_011529842.1:c.925-42dup | XP_011528144.1:n.925-42dup | |
| XM_011529843.1:c.895-42dup | XP_011528145.1:n.895-42dup | |
| XM_011529845.1:c.433-42dup | XP_011528147.1:n.433-42dup | |
| XR_937805.1:n.1255-42dup | ||
| XR_937806.1:n.1163-42dup | ||
| NM_001349956.1:c.895-42dup | NP_001336885.1:n.895-42dup | |
| NM_007194.4:c.1096-42dup MANE Select | NP_009125.1:n.1096-42dup | |
| XM_006724114.3:c.649-42dup | XP_006724177.2:n.649-42dup | |
| XM_011529839.2:c.1255-42dup | XP_011528141.1:n.1255-42dup | |
| XM_011529840.3:c.1168-42dup | XP_011528142.1:n.1168-42dup | |
| XM_011529842.2:c.925-42dup | XP_011528144.1:n.925-42dup | |
| XM_011529845.2:c.433-42dup | XP_011528147.1:n.433-42dup | |
| XM_017028560.1:c.1219-42dup | XP_016884049.1:n.1219-42dup | |
| XM_017028561.2:c.433-42dup | XP_016884050.1:n.433-42dup | |
| XM_024452148.1:c.1126-42dup | XP_024307916.1:n.1126-42dup | |
| XM_024452149.1:c.1039-42dup | XP_024307917.1:n.1039-42dup | |
| XR_937805.2:n.1266-42dup | ||
| XR_937806.2:n.1179-42dup | ||
| NM_001005735.2:c.1225-42dup | NP_001005735.1:n.1225-42dup | |
| NM_001257387.2:c.433-42dup | NP_001244316.1:n.433-42dup | |
| NM_001349956.2:c.895-42dup | NP_001336885.1:n.895-42dup |