Linked Data
dbSNP Id:
rs762967896
ExAC:
11:6638160 AC / A
gnomAD v2:
11-6638160-AC-A
gnomAD v4:
11-6616929-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616930del , CM000673.2:g.6616930del | GRCh38 |
| NC_000011.9:g.6638161del , CM000673.1:g.6638161del | GRCh37 |
| NC_000011.8:g.6594737del | NCBI36 |
| NG_008653.1:g.7532del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.573+45del | ENSP00000507321.1:n.573+45del | |
| ENST00000299427.12:c.687+45del MANE Select | ENSP00000299427.6:n.687+45del | |
| ENST00000436873.7:c.312+371del | ||
| ENST00000524788.2:n.1846+45del | ||
| ENST00000524903.2:n.1962+45del | ||
| ENST00000528807.2:n.343+45del | ||
| ENST00000530040.2:n.480-427del | ||
| ENST00000533371.6:c.-43+45del | ENSP00000437066.1:n.-43+45del | |
| ENST00000642892.1:c.-43+45del | ENSP00000494165.1:n.-43+45del | |
| ENST00000643439.1:c.*427+45del | ENSP00000495849.1:n.*427+45del | |
| ENST00000643479.1:n.716+45del | ||
| ENST00000643516.1:c.395+371del | ||
| ENST00000644151.1:n.2126+45del | ||
| ENST00000644218.1:c.687+45del | ENSP00000493574.1:n.687+45del | |
| ENST00000644683.1:c.*140+45del | ENSP00000494085.1:n.*140+45del | |
| ENST00000644810.1:c.408+45del | ENSP00000495895.1:n.408+45del | |
| ENST00000644831.1:n.863+45del | ||
| ENST00000644933.1:c.-43+45del | ENSP00000496133.1:n.-43+45del | |
| ENST00000645020.1:n.1907del | ||
| ENST00000645285.1:c.-43+45del | ENSP00000495058.1:n.-43+45del | |
| ENST00000645331.1:n.1053+45del | ||
| ENST00000645620.1:c.-43+45del | ENSP00000493657.1:n.-43+45del | |
| ENST00000646777.1:n.863+45del | ||
| ENST00000647016.1:n.1167+45del | ||
| ENST00000647152.1:c.-43+45del | ENSP00000495893.1:n.-43+45del | |
| ENST00000647209.1:c.*556+45del | ENSP00000495558.1:n.*556+45del | |
| ENST00000647346.1:n.1707+45del | ||
| ENST00000299427.10:c.687+45del | ENSP00000299427.6:n.687+45del | |
| ENST00000436873.6:c.451-427del | ENSP00000398136.2:n.451-427del | |
| ENST00000524788.1:n.387+45del | ||
| ENST00000528807.1:n.237+45del | ||
| ENST00000533371.5:c.-43+45del | ENSP00000437066.1:n.-43+45del | |
| ENST00000611494.4:c.687+45del | ENSP00000484546.1:n.687+45del | |
| NM_000391.3:c.687+45del | NP_000382.3:n.687+45del | |
| NM_000391.4:c.687+45del MANE Select | NP_000382.3:n.687+45del |