gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000934 (AMR)
Exomes Max Group AF
0.00001738 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80318671del , CM000674.2:g.80318671del | GRCh38 |
| NC_000012.11:g.80712451del , CM000674.1:g.80712451del | GRCh37 |
| NC_000012.10:g.79236582del | NCBI36 |
| NG_033008.1:g.114219del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.3760del MANE Select | ENSP00000447211.2:p.Tyr1254IlefsTer3 | |
| ENST00000646859.1:c.3625del | ENSP00000496036.1:p.Tyr1209IlefsTer3 | |
| ENST00000458043.6:c.3733del | ENSP00000400895.2:p.Tyr1245IlefsTer3 | |
| ENST00000547103.5:c.3733del | ENSP00000447211.1:p.Tyr1245IlefsTer3 | |
| NM_173591.3:c.3733del | NP_775862.3:p.Tyr1245IlefsTer3 | |
| XM_005268802.2:c.3784del | XP_005268859.1:p.Tyr1262IlefsTer3 | |
| XM_011538191.1:c.3784del | XP_011536493.1:p.Tyr1262IlefsTer3 | |
| XM_011538192.1:c.3631del | XP_011536494.1:p.Tyr1211IlefsTer3 | |
| XM_011538193.1:c.3418del | XP_011536495.1:p.Tyr1140IlefsTer3 | |
| XM_005268802.3:c.3784del | XP_005268859.1:p.Tyr1262IlefsTer3 | |
| XM_011538192.2:c.3631del | XP_011536494.1:p.Tyr1211IlefsTer3 | |
| NM_001368062.1:c.3598del | NP_001354991.1:p.Tyr1200IlefsTer3 | |
| NM_001368062.3:c.3625del | NP_001354991.2:p.Tyr1209IlefsTer3 | |
| NM_001378609.3:c.3760del MANE Select | NP_001365538.2:p.Tyr1254IlefsTer3 | |
| NM_001378610.3:c.3760del | NP_001365539.2:p.Tyr1254IlefsTer3 | |
| NM_173591.7:c.3760del | NP_775862.4:p.Tyr1254IlefsTer3 |