Linked Data
dbSNP Id:
rs767789916
ExAC:
10:71142421 GAC / G
gnomAD v2:
10-71142421-GAC-G
gnomAD v4:
10-69382665-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69382667_69382668del , CM000672.2:g.69382667_69382668del | GRCh38 |
| NC_000010.10:g.71142423_71142424del , CM000672.1:g.71142423_71142424del | GRCh37 |
| NC_000010.9:g.70812429_70812430del | NCBI36 |
| NG_012077.1:g.117668_117669del , LRG_365:g.117668_117669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1446_1447del | ENSP00000515580.1:p.Met483AlafsTer27 | |
| ENST00000703945.1:c.1362_1363del | ENSP00000515578.1:p.Met455AlafsTer27 | |
| ENST00000703946.1:c.1265+2572_1265+2573del | ENSP00000515579.1:n.1265+2572_1265+2573del | |
| ENST00000703947.1:c.1056_1057del | ENSP00000515581.1:p.Met353AlafsTer27 | |
| ENST00000703948.1:c.*1063_*1064del | ENSP00000515582.1:n.*1063_*1064del | |
| ENST00000703949.1:c.1446_1447del | ENSP00000515583.1:p.Met483AlafsTer27 | |
| ENST00000703950.1:c.1446_1447del | ENSP00000515584.1:p.Met483AlafsTer27 | |
| ENST00000703951.1:c.1265+2572_1265+2573del | ENSP00000515585.1:n.1265+2572_1265+2573del | |
| ENST00000703952.1:c.1265+2572_1265+2573del | ENSP00000515586.1:n.1265+2572_1265+2573del | |
| ENST00000703953.1:c.*709_*710del | ENSP00000515587.1:n.*709_*710del | |
| ENST00000703954.1:c.1326_1327del | ENSP00000515588.1:p.Met443AlafsTer27 | |
| ENST00000703955.1:n.1996_1997del | ||
| ENST00000298649.8:c.1443_1444del | ENSP00000298649.3:p.Met482AlafsTer27 | |
| ENST00000359426.7:c.1446_1447del MANE Select | ENSP00000352398.6:p.Met483AlafsTer27 | |
| ENST00000436817.6:c.1458_1459del | ENSP00000415949.2:p.Met487AlafsTer27 | |
| ENST00000493591.6:c.*1334_*1335del | ENSP00000494917.1:n.*1334_*1335del | |
| ENST00000643399.2:c.1458_1459del MANE Plus Clinical | ENSP00000494664.1:p.Met487AlafsTer27 | |
| ENST00000298649.7:c.1443_1444del | ENSP00000298649.3:p.Met482AlafsTer27 | |
| ENST00000359426.6:c.1446_1447del | ENSP00000352398.6:p.Met483AlafsTer27 | |
| ENST00000360289.6:c.1410_1411del | ENSP00000353433.2:p.Met471AlafsTer27 | |
| ENST00000448642.6:c.1458_1459del | ENSP00000402103.3:p.Met487AlafsTer27 | |
| ENST00000494253.1:n.1672_1673del | ||
| NM_000188.2:c.1446_1447del | NP_000179.2:p.Met483AlafsTer27 | |
| NM_033496.2:c.1443_1444del | NP_277031.1:p.Met482AlafsTer27 | |
| NM_033497.2:c.1458_1459del | NP_277032.1:p.Met487AlafsTer27 | |
| NM_033498.2:c.1458_1459del | NP_277033.1:p.Met487AlafsTer27 | |
| NM_033500.2:c.1410_1411del , LRG_365t1:c.1410_1411del | NP_277035.2:p.Met471AlafsTer27 | |
| XM_005269735.2:c.1575_1576del | XP_005269792.1:p.Met526AlafsTer27 | |
| XM_005269736.1:c.1458_1459del | XP_005269793.1:p.Met487AlafsTer27 | |
| XM_005269737.1:c.1362_1363del | XP_005269794.1:p.Met455AlafsTer27 | |
| XM_011539732.1:c.1410_1411del | XP_011538034.1:p.Met471AlafsTer27 | |
| XM_011539733.1:c.1404_1405del | XP_011538035.1:p.Met469AlafsTer27 | |
| XM_011539734.1:c.1401_1402del | XP_011538036.1:p.Met468AlafsTer27 | |
| NM_001322364.1:c.1458_1459del | NP_001309293.1:p.Met487AlafsTer27 | |
| NM_001322365.1:c.1551_1552del | NP_001309294.1:p.Met518AlafsTer27 | |
| NM_001322366.1:c.1362_1363del | NP_001309295.1:p.Met455AlafsTer27 | |
| NM_001322367.1:c.1350_1351del | NP_001309296.1:p.Met451AlafsTer27 | |
| NM_001358263.1:c.1458_1459del MANE Plus Clinical | NP_001345192.1:p.Met487AlafsTer27 | |
| XM_024447969.1:c.1458_1459del | XP_024303737.1:p.Met487AlafsTer27 | |
| NM_000188.3:c.1446_1447del MANE Select | NP_000179.2:p.Met483AlafsTer27 | |
| NM_001322364.2:c.1458_1459del | NP_001309293.1:p.Met487AlafsTer27 | |
| NM_001322365.2:c.1551_1552del | NP_001309294.1:p.Met518AlafsTer27 | |
| NM_033496.3:c.1443_1444del | NP_277031.1:p.Met482AlafsTer27 | |
| NM_033497.3:c.1458_1459del | NP_277032.1:p.Met487AlafsTer27 | |
| NM_033498.3:c.1458_1459del | NP_277033.1:p.Met487AlafsTer27 |