Linked Data
dbSNP Id:
rs769805840
ExAC:
1:11087639 TCAC / T
gnomAD v2:
1-11087639-TCAC-T
gnomAD v4:
1-11027582-TCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11027585_11027587del , CM000663.2:g.11027585_11027587del | GRCh38 |
| NC_000001.10:g.11087642_11087644del , CM000663.1:g.11087642_11087644del | GRCh37 |
| NC_000001.9:g.11010229_11010231del | NCBI36 |
| NG_007289.1:g.24644_24646del | |
| NG_007289.2:g.24644_24646del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699927.1:n.300_302del (MASP2) | ||
| ENST00000699958.1:c.1256_1258del (MASP2) | ENSP00000514717.1:p.Gly419del | |
| ENST00000700088.1:c.1298-737_1298-735del (MASP2) | ENSP00000514787.1:n.1298-737_1298-735del | |
| ENST00000700089.1:c.1358_1360del (MASP2) | ENSP00000514788.1:n.1358_1360del | |
| ENST00000700090.1:c.1240_1242del (MASP2) | ENSP00000514789.1:n.1240_1242del | |
| ENST00000700091.1:c.1163_1165del (MASP2) | ENSP00000514790.1:p.Gly388del | |
| ENST00000700092.1:c.1340_1342del (MASP2) | ENSP00000514791.1:p.Gly447del | |
| ENST00000700093.1:c.1337_1339del (MASP2) | ENSP00000514792.1:p.Gly446del | |
| ENST00000700094.1:c.1369_1371del (MASP2) | ENSP00000514793.1:n.1369_1371del | |
| ENST00000700095.1:c.1298-737_1298-735del (MASP2) | ENSP00000514794.1:n.1298-737_1298-735del | |
| ENST00000700096.1:c.1101-737_1101-735del (MASP2) | ENSP00000514795.1:n.1101-737_1101-735del | |
| ENST00000700097.1:c.1389_1391del (MASP2) | ENSP00000514796.1:p.Trp463Ter | |
| ENST00000400897.8:c.1361_1363del (MASP2) MANE Select | ENSP00000383690.3:p.Gly454del | |
| ENST00000400897.7:c.1361_1363del (MASP2) | ENSP00000383690.3:p.Gly454del | |
| ENST00000611136.4:c.448+2377_448+2379del | ||
| ENST00000612542.1:c.206+2377_206+2379del | ||
| ENST00000614757.4:c.*452+2377_*452+2379del | ENSP00000481867.1:n.*452+2377_*452+2379del | |
| ENST00000620028.1:n.416+2377_416+2379del | ||
| ENST00000622108.1:c.232-2102_232-2100del | ENSP00000480398.1:n.232-2102_232-2100del | |
| NM_006610.3:c.1361_1363del (MASP2) | NP_006601.2:p.Gly454del | |
| XM_017000863.2:c.*3011+1920_*3011+1922del (TARDBP) | XP_016856352.1:n.*3011+1920_*3011+1922del | |
| XM_017000864.2:c.*1895+1920_*1895+1922del (TARDBP) | XP_016856353.1:n.*1895+1920_*1895+1922del | |
| XM_017000865.2:c.*1781-2102_*1781-2100del (TARDBP) | XP_016856354.1:n.*1781-2102_*1781-2100del | |
| NM_006610.4:c.1361_1363del (MASP2) MANE Select | NP_006601.2:p.Gly454del |