Linked Data
dbSNP Id:
rs771594072
ExAC:
15:75012961 AGAG / A
gnomAD v2:
15-75012961-AGAG-A
gnomAD v4:
15-74720620-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720621_74720623del , CM000677.2:g.74720621_74720623del | GRCh38 |
| NC_000015.9:g.75012962_75012964del , CM000677.1:g.75012962_75012964del | GRCh37 |
| NC_000015.8:g.72800015_72800017del | NCBI36 |
| NG_008431.1:g.3080_3082del | |
| NG_008431.2:g.3080_3082del | |
| NG_061374.1:g.9906_9908del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1405_1407del MANE Select | ENSP00000369050.3:p.Leu469del | |
| ENST00000379727.7:c.1405_1407del | ENSP00000369050.3:p.Leu469del | |
| ENST00000395048.6:c.1405_1407del | ENSP00000378488.2:p.Leu469del | |
| ENST00000395049.8:c.1318_1320del | ENSP00000378489.4:p.Leu440del | |
| ENST00000567032.5:c.1405_1407del | ENSP00000456585.1:p.Leu469del | |
| ENST00000612821.4:c.1321_1323del | ENSP00000479744.1:p.Leu441del | |
| ENST00000617691.4:c.1318_1320del | ENSP00000482863.1:p.Leu440del | |
| NM_000499.3:c.1405_1407del | NP_000490.1:p.Leu469del | |
| XM_005254185.1:c.1405_1407del | XP_005254242.1:p.Leu469del | |
| NM_000499.5:c.1405_1407del | NP_000490.1:p.Leu469del | |
| NM_001319216.2:c.1318_1320del | NP_001306145.1:p.Leu440del | |
| NM_001319217.2:c.1405_1407del MANE Select | NP_001306146.1:p.Leu469del |