Linked Data
ClinVar Variation Id:
407076
dbSNP Id:
rs765354113
ExAC:
17:38785194 CCTT / C
gnomAD v2:
17-38785194-CCTT-C
gnomAD v3:
17-40628942-CCTT-C
gnomAD v4:
17-40628942-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628947_40628949del , CM000679.2:g.40628947_40628949del | GRCh38 |
| NC_000017.10:g.38785199_38785201del , CM000679.1:g.38785199_38785201del | GRCh37 |
| NC_000017.9:g.36038725_36038727del | NCBI36 |
| NG_032163.1:g.23907_23909del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*638_*640del | ENSP00000466608.2:n.*638_*640del | |
| ENST00000348513.12:c.1076_1078del MANE Select | ENSP00000323967.6:p.Glu359del | |
| ENST00000377808.9:c.*63_*65del | ENSP00000367039.4:n.*63_*65del | |
| ENST00000400122.8:c.*63_*65del | ENSP00000411607.2:n.*63_*65del | |
| ENST00000469334.6:n.1674_1676del | ||
| ENST00000578044.6:c.866_868del | ENSP00000464511.1:p.Glu289del | |
| ENST00000578112.6:c.*873_*875del | ENSP00000464501.1:n.*873_*875del | |
| ENST00000580419.6:c.*55_*57del | ENSP00000462475.2:n.*55_*57del | |
| ENST00000642576.1:n.2219_2221del | ||
| ENST00000643030.1:n.1699_1701del | ||
| ENST00000643255.1:c.*3140_*3142del | ENSP00000493957.1:n.*3140_*3142del | |
| ENST00000643318.1:c.866_868del | ENSP00000494771.1:p.Glu289del | |
| ENST00000643378.1:n.1631_1633del | ||
| ENST00000643683.1:c.1076_1078del | ENSP00000496094.1:p.Glu359del | |
| ENST00000643893.1:n.1369_1371del | ||
| ENST00000644443.1:n.2964_2966del | ||
| ENST00000644523.1:n.1122_1124del | ||
| ENST00000644527.1:c.848_850del | ENSP00000493974.1:p.Glu283del | |
| ENST00000644701.1:c.*63_*65del | ENSP00000496097.1:n.*63_*65del | |
| ENST00000644909.1:c.*345_*347del | ENSP00000493649.1:n.*345_*347del | |
| ENST00000645152.1:n.1739_1741del | ||
| ENST00000645227.1:c.*764_*766del | ENSP00000495021.1:n.*764_*766del | |
| ENST00000646242.1:n.6988_6990del | ||
| ENST00000646283.1:c.884_886del | ENSP00000494537.1:p.Glu295del | |
| ENST00000646401.1:n.2442_2444del | ||
| ENST00000646448.1:n.2350_2352del | ||
| ENST00000646856.1:c.*952_*954del | ENSP00000494505.1:n.*952_*954del | |
| ENST00000647294.1:c.*1006_*1008del | ENSP00000494815.1:n.*1006_*1008del | |
| ENST00000647508.1:c.971_973del | ENSP00000496445.1:p.Glu324del | |
| ENST00000647515.1:c.*607_*609del | ENSP00000495857.1:n.*607_*609del | |
| ENST00000348513.10:c.1076_1078del | ENSP00000323967.6:p.Glu359del | |
| ENST00000377808.8:c.*63_*65del | ENSP00000367039.4:n.*63_*65del | |
| ENST00000400122.7:c.*63_*65del | ENSP00000411607.2:n.*63_*65del | |
| ENST00000431889.6:c.1022_1024del | ENSP00000445370.1:p.Glu341del | |
| ENST00000469334.5:n.1663_1665del | ||
| ENST00000476049.1:c.*1424_*1426del | ENSP00000463483.1:n.*1424_*1426del | |
| ENST00000578044.5:c.866_868del | ENSP00000464511.1:p.Glu289del | |
| ENST00000578112.5:c.*873_*875del | ENSP00000464501.1:n.*873_*875del | |
| ENST00000580419.5:c.971_973del | ENSP00000462475.1:p.Glu324del | |
| NM_003079.4:c.1076_1078del | NP_003070.3:p.Glu359del | |
| NM_003079.5:c.1076_1078del MANE Select | NP_003070.3:p.Glu359del |