Linked Data
dbSNP Id:
rs776780660
ExAC:
9:120476054 GAT / G
gnomAD v2:
9-120476054-GAT-G
gnomAD v4:
9-117713776-GAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117713777_117713778del , CM000671.2:g.117713777_117713778del | GRCh38 |
| NC_000009.11:g.120476055_120476056del , CM000671.1:g.120476055_120476056del | GRCh37 |
| NC_000009.10:g.119515876_119515877del | NCBI36 |
| NG_011475.1:g.14596_14597del | |
| NG_011475.2:g.14375_14376del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646089.2:c.93+9212_93+9213del | ENSP00000496197.1:n.93+9212_93+9213del | |
| ENST00000697624.1:n.200+9212_200+9213del | ||
| ENST00000697625.1:c.93+9212_93+9213del | ENSP00000513362.1:n.93+9212_93+9213del | |
| ENST00000697636.1:c.93+9212_93+9213del | ENSP00000513366.1:n.93+9212_93+9213del | |
| ENST00000697637.1:c.93+9212_93+9213del | ENSP00000513367.1:n.93+9212_93+9213del | |
| ENST00000697664.1:c.140+5048_140+5049del | ENSP00000513389.1:n.140+5048_140+5049del | |
| ENST00000697665.1:c.93+9212_93+9213del | ENSP00000513390.1:n.93+9212_93+9213del | |
| ENST00000697666.1:c.140+5048_140+5049del | ENSP00000513391.1:n.140+5048_140+5049del | |
| ENST00000355622.8:c.1649_1650del MANE Select | ENSP00000363089.5:p.Asp550ValfsTer20 | |
| ENST00000394487.5:c.1529_1530del | ENSP00000377997.4:p.Asp510ValfsTer20 | |
| ENST00000472304.2:c.*1383_*1384del | ENSP00000496429.1:n.*1383_*1384del | |
| ENST00000642985.1:c.260+5048_260+5049del | ENSP00000493686.1:n.260+5048_260+5049del | |
| ENST00000646089.1:c.93+9212_93+9213del | ENSP00000496197.1:n.93+9212_93+9213del | |
| ENST00000665764.1:c.93+9212_93+9213del | ENSP00000499745.1:n.93+9212_93+9213del | |
| ENST00000355622.6:c.1649_1650del | ENSP00000363089.5:p.Asp550ValfsTer20 | |
| ENST00000394487.4:c.1529_1530del | ENSP00000377997.4:p.Asp510ValfsTer20 | |
| ENST00000472304.1:n.1566_1567del | ||
| NM_003266.3:c.1529_1530del | NP_003257.1:p.Asp510ValfsTer20 | |
| NM_138554.4:c.1649_1650del | NP_612564.1:p.Asp550ValfsTer20 | |
| NM_138557.2:c.1049_1050del | NP_612567.1:p.Asp350ValfsTer20 | |
| NM_138554.5:c.1649_1650del MANE Select | NP_612564.1:p.Asp550ValfsTer20 | |
| NM_003266.4:c.1529_1530del | NP_003257.1:p.Asp510ValfsTer20 | |
| NM_138557.3:c.1049_1050del | NP_612567.1:p.Asp350ValfsTer20 |