Linked Data
dbSNP Id:
rs782614380
ExAC:
11:14900720 GC / G
gnomAD v2:
11-14900720-GC-G
gnomAD v4:
11-14879174-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14879175del , CM000673.2:g.14879175del | GRCh38 |
| NC_000011.9:g.14900721del , CM000673.1:g.14900721del | GRCh37 |
| NC_000011.8:g.14857297del | NCBI36 |
| NG_007936.1:g.18031del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.1269del MANE Select | ENSP00000334592.5:p.Glu423AspfsTer21 | |
| ENST00000334636.9:c.1269del | ENSP00000334592.5:p.Glu423AspfsTer21 | |
| ENST00000525015.1:c.99del | ||
| ENST00000530609.5:c.*865del | ENSP00000466060.1:n.*865del | |
| ENST00000532378.5:c.570del | ENSP00000435484.1:p.Glu190AspfsTer21 | |
| ENST00000532805.1:c.*377del | ENSP00000465097.1:n.*377del | |
| ENST00000534686.5:c.*629del | ENSP00000432087.2:n.*629del | |
| NM_024514.4:c.1269del | NP_078790.2:p.Glu423AspfsTer21 | |
| XM_005252788.1:c.1125del | XP_005252845.1:p.Glu375AspfsTer21 | |
| XM_005252789.2:c.1107del | XP_005252846.1:p.Glu369AspfsTer21 | |
| XM_005252791.3:c.924del | XP_005252848.1:p.Glu308AspfsTer21 | |
| XM_006718142.2:c.1224del | XP_006718205.1:p.Glu408AspfsTer21 | |
| XM_011519894.1:c.924del | XP_011518196.1:p.Glu308AspfsTer21 | |
| XM_011519895.1:c.924del | XP_011518197.1:p.Glu308AspfsTer21 | |
| XM_011519896.1:c.924del | XP_011518198.1:p.Glu308AspfsTer21 | |
| XM_011519897.1:c.924del | XP_011518199.1:p.Glu308AspfsTer21 | |
| XM_011519898.1:c.924del | XP_011518200.1:p.Glu308AspfsTer21 | |
| XR_242777.2:n.1086del | ||
| XM_005252788.2:c.1125del | XP_005252845.1:p.Glu375AspfsTer21 | |
| XM_005252789.3:c.1107del | XP_005252846.1:p.Glu369AspfsTer21 | |
| XM_011519895.2:c.924del | XP_011518197.1:p.Glu308AspfsTer21 | |
| XM_011519898.3:c.924del | XP_011518200.1:p.Glu308AspfsTer21 | |
| XM_017017190.2:c.1104del | XP_016872679.1:p.Glu368AspfsTer21 | |
| XM_017017191.2:c.924del | XP_016872680.1:p.Glu308AspfsTer21 | |
| XM_017017192.2:c.924del | XP_016872681.1:p.Glu308AspfsTer21 | |
| XM_017017193.2:c.924del | XP_016872682.1:p.Glu308AspfsTer21 | |
| XM_017017194.2:c.924del | XP_016872683.1:p.Glu308AspfsTer21 | |
| XM_024448345.1:c.1104del | XP_024304113.1:p.Glu368AspfsTer21 | |
| XM_024448346.1:c.924del | XP_024304114.1:p.Glu308AspfsTer21 | |
| XM_024448347.1:c.924del | XP_024304115.1:p.Glu308AspfsTer21 | |
| XM_024448348.1:c.924del | XP_024304116.1:p.Glu308AspfsTer21 | |
| XR_002957123.1:n.1049del | ||
| XR_002957124.1:n.1315del | ||
| XR_242777.3:n.1086del | ||
| NM_001377214.1:c.924del | NP_001364143.1:p.Glu308AspfsTer21 | |
| NM_001377215.1:c.924del | NP_001364144.1:p.Glu308AspfsTer21 | |
| NM_001377216.1:c.924del | NP_001364145.1:p.Glu308AspfsTer21 | |
| NM_001377217.1:c.1107del | NP_001364146.1:p.Glu369AspfsTer21 | |
| NM_001377227.1:c.924del | NP_001364156.1:p.Glu308AspfsTer21 | |
| NM_024514.5:c.1269del MANE Select | NP_078790.2:p.Glu423AspfsTer21 | |
| NM_001400558.1:c.924del | NP_001387487.1:p.Glu308AspfsTer21 | |
| NM_001400559.1:c.924del | NP_001387488.1:p.Glu308AspfsTer21 | |
| NM_001400560.1:c.924del | NP_001387489.1:p.Glu308AspfsTer21 | |
| NM_001400561.1:c.924del | NP_001387490.1:p.Glu308AspfsTer21 | |
| NM_001400562.1:c.570del | NP_001387491.1:p.Glu190AspfsTer21 | |
| NM_001400563.1:c.570del | NP_001387492.1:p.Glu190AspfsTer21 | |
| NM_001400564.1:c.570del | NP_001387493.1:p.Glu190AspfsTer21 | |
| NM_001400565.1:c.570del | NP_001387494.1:p.Glu190AspfsTer21 | |
| NM_001400566.1:c.291del | NP_001387495.1:p.Glu97AspfsTer21 | |
| NM_001400567.1:c.1125del | NP_001387496.1:p.Glu375AspfsTer21 | |
| NM_001400568.1:c.1224del | NP_001387497.1:p.Glu408AspfsTer21 | |
| NR_174512.1:n.1136del | ||
| NR_174513.1:n.985del | ||
| NR_174514.1:n.1360del | ||
| NR_174515.1:n.1769del | ||
| NR_174516.1:n.947del | ||
| NR_174517.1:n.483del | ||
| NR_174518.1:n.1580del | ||
| NR_174519.1:n.1327del | ||
| NR_174520.1:n.1118del | ||
| NR_174521.1:n.1618del | ||
| NR_174522.1:n.1116del | ||
| NR_174523.1:n.1527del |