Linked Data
dbSNP Id:
rs774780243
ExAC:
11:130750561 GC / G
gnomAD v2:
11-130750561-GC-G
gnomAD v4:
11-130880666-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880668del , CM000673.2:g.130880668del | GRCh38 |
| NC_000011.9:g.130750563del , CM000673.1:g.130750563del | GRCh37 |
| NC_000011.8:g.130255773del | NCBI36 |
| NG_053190.1:g.40822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2713del MANE Select | ENSP00000265909.4:p.Ala905LeufsTer10 | |
| ENST00000265909.8:c.2713del | ENSP00000265909.4:p.Ala905LeufsTer10 | |
| ENST00000426933.6:c.217del | ENSP00000413345.2:p.Ala73LeufsTer10 | |
| ENST00000526579.5:n.178-956del | ||
| ENST00000527116.5:n.475del | ||
| ENST00000528555.5:c.853del | ENSP00000435122.1:p.Ala285LeufsTer10 | |
| ENST00000530330.1:n.449del | ||
| ENST00000530356.5:c.853del | ENSP00000432307.1:p.Ala285LeufsTer10 | |
| ENST00000533318.5:n.1073del | ||
| ENST00000534726.5:c.433del | ENSP00000433699.1:p.Ala145LeufsTer10 | |
| NM_001301089.1:c.853del | NP_001288018.1:p.Ala285LeufsTer10 | |
| NM_014758.2:c.2713del | NP_055573.2:p.Ala905LeufsTer10 | |
| XM_005271546.3:c.2574-956del | XP_005271603.1:n.2574-956del | |
| XM_011542819.1:c.2959del | XP_011541121.1:p.Ala987LeufsTer10 | |
| XM_011542820.1:c.2947del | XP_011541122.1:p.Ala983LeufsTer10 | |
| XM_011542821.1:c.2839del | XP_011541123.1:p.Ala947LeufsTer10 | |
| XM_011542824.1:c.2077del | XP_011541126.1:p.Ala693LeufsTer10 | |
| XM_011542825.1:c.1234del | XP_011541127.1:p.Ala412LeufsTer10 | |
| XM_011542826.1:c.1099del | XP_011541128.1:p.Ala367LeufsTer10 | |
| XM_011542827.1:c.979del | XP_011541129.1:p.Ala327LeufsTer10 | |
| NM_001347918.1:c.2593del | NP_001334847.1:p.Ala865LeufsTer10 | |
| NM_001347919.1:c.2574-956del | NP_001334848.1:n.2574-956del | |
| NM_001347922.1:c.1042del | NP_001334851.1:p.Ala348LeufsTer10 | |
| NM_001347923.1:c.988del | NP_001334852.1:p.Ala330LeufsTer10 | |
| NM_001347924.1:c.733del | NP_001334853.1:p.Ala245LeufsTer10 | |
| NM_001347925.1:c.679del | NP_001334854.1:p.Ala227LeufsTer10 | |
| NM_001347926.1:c.714-956del | NP_001334855.1:n.714-956del | |
| NM_001347927.1:c.433del | NP_001334856.1:p.Ala145LeufsTer10 | |
| NR_144939.1:n.3346del | ||
| XM_011542820.2:c.2947del | XP_011541122.1:p.Ala983LeufsTer10 | |
| XM_011542821.3:c.2839del | XP_011541123.1:p.Ala947LeufsTer10 | |
| XM_011542824.2:c.2077del | XP_011541126.1:p.Ala693LeufsTer10 | |
| XM_011542825.2:c.1234del | XP_011541127.1:p.Ala412LeufsTer10 | |
| XM_011542826.2:c.1099del | XP_011541128.1:p.Ala367LeufsTer10 | |
| XM_024448521.1:c.2959del | XP_024304289.1:p.Ala987LeufsTer10 | |
| XR_001747870.1:n.3784del | ||
| XR_001747872.1:n.3130del | ||
| XR_001747873.1:n.3444del | ||
| NM_001301089.2:c.853del | NP_001288018.1:p.Ala285LeufsTer10 | |
| NM_001347918.2:c.2593del | NP_001334847.2:p.Ala865LeufsTer10 | |
| NM_001347919.2:c.2574-956del | NP_001334848.2:n.2574-956del | |
| NM_001347920.2:c.*21109del | NP_001334849.2:n.*21109del | |
| NM_001347922.2:c.1042del | NP_001334851.2:p.Ala348LeufsTer10 | |
| NM_001347923.2:c.988del | NP_001334852.2:p.Ala330LeufsTer10 | |
| NM_001347924.2:c.733del | NP_001334853.1:p.Ala245LeufsTer10 | |
| NM_001347925.2:c.679del | NP_001334854.1:p.Ala227LeufsTer10 | |
| NM_001347926.2:c.714-956del | NP_001334855.1:n.714-956del | |
| NM_001347927.2:c.433del | NP_001334856.1:p.Ala145LeufsTer10 | |
| NM_014758.3:c.2713del MANE Select | NP_055573.3:p.Ala905LeufsTer10 | |
| NR_144939.2:n.3338del |