Linked Data
dbSNP Id:
rs751889439
ExAC:
17:37884066 GGTC / G
gnomAD v2:
17-37884066-GGTC-G
gnomAD v3:
17-39727813-GGTC-G
gnomAD v4:
17-39727813-GGTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727817_39727819del , CM000679.2:g.39727817_39727819del | GRCh38 |
| NC_000017.10:g.37884070_37884072del , CM000679.1:g.37884070_37884072del | GRCh37 |
| NC_000017.9:g.35137596_35137598del | NCBI36 |
| NG_007503.1:g.44678_44680del , LRG_724:g.44678_44680del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3541_3543del MANE Select | ENSP00000269571.4:p.Val1181del | |
| ENST00000269571.9:c.3541_3543del | ENSP00000269571.4:p.Val1181del | |
| ENST00000406381.6:c.3451_3453del | ENSP00000385185.2:p.Val1151del | |
| ENST00000445658.6:c.2713_2715del | ENSP00000404047.2:p.Val905del | |
| ENST00000541774.5:c.3496_3498del | ENSP00000446466.1:p.Val1166del | |
| ENST00000578373.5:c.*3331_*3333del | ENSP00000463427.1:n.*3331_*3333del | |
| ENST00000584450.5:c.*120_*122del | ENSP00000463714.1:n.*120_*122del | |
| ENST00000584601.5:c.3451_3453del | ENSP00000462438.1:p.Val1151del | |
| NM_001005862.2:c.3451_3453del , LRG_724t1:c.3451_3453del | NP_001005862.1:p.Val1151del | |
| NM_001289936.1:c.3496_3498del , LRG_724t4:c.3496_3498del | NP_001276865.1:p.Val1166del | |
| NM_001289937.1:c.*120_*122del | NP_001276866.1:n.*120_*122del | |
| NM_004448.3:c.3541_3543del , LRG_724t2:c.3541_3543del | NP_004439.2:p.Val1181del | |
| NR_110535.1:n.3865_3867del | ||
| XM_024450641.1:c.3679_3681del | XP_024306409.1:p.Val1227del | |
| XM_024450642.1:c.3634_3636del | XP_024306410.1:p.Val1212del | |
| XM_024450643.1:c.3589_3591del | XP_024306411.1:p.Val1197del | |
| NM_001005862.3:c.3451_3453del | NP_001005862.1:p.Val1151del | |
| NM_001289936.2:c.3496_3498del | NP_001276865.1:p.Val1166del | |
| NM_001289937.2:c.*120_*122del | NP_001276866.1:n.*120_*122del | |
| NM_001382782.1:c.3451_3453del | NP_001369711.1:p.Val1151del | |
| NM_001382783.1:c.3451_3453del | NP_001369712.1:p.Val1151del | |
| NM_001382784.1:c.3658_3660del | NP_001369713.1:p.Val1220del | |
| NM_001382785.1:c.3643_3645del | NP_001369714.1:p.Val1215del | |
| NM_001382786.1:c.3622_3624del | NP_001369715.1:p.Val1208del | |
| NM_001382787.1:c.3616_3618del | NP_001369716.1:p.Val1206del | |
| NM_001382788.1:c.3571_3573del | NP_001369717.1:p.Val1191del | |
| NM_001382789.1:c.3562_3564del | NP_001369718.1:p.Val1188del | |
| NM_001382790.1:c.3538_3540del | NP_001369719.1:p.Val1180del | |
| NM_001382791.1:c.3532_3534del | NP_001369720.1:p.Val1178del | |
| NM_001382792.1:c.3505_3507del | NP_001369721.1:p.Val1169del | |
| NM_001382793.1:c.3499_3501del | NP_001369722.1:p.Val1167del | |
| NM_001382794.1:c.3499_3501del | NP_001369723.1:p.Val1167del | |
| NM_001382795.1:c.3493_3495del | NP_001369724.1:p.Val1165del | |
| NM_001382796.1:c.3454_3456del | NP_001369725.1:p.Val1152del | |
| NM_001382797.1:c.3442_3444del | NP_001369726.1:p.Val1148del | |
| NM_001382798.1:c.3385_3387del | NP_001369727.1:p.Val1129del | |
| NM_001382799.1:c.3361_3363del | NP_001369728.1:p.Val1121del | |
| NM_001382800.1:c.3355_3357del | NP_001369729.1:p.Val1119del | |
| NM_001382801.1:c.3337_3339del | NP_001369730.1:p.Val1113del | |
| NM_001382802.1:c.3283_3285del | NP_001369731.1:p.Val1095del | |
| NM_001382803.1:c.*120_*122del | NP_001369732.1:n.*120_*122del | |
| NM_001382804.1:c.2713_2715del | NP_001369733.1:p.Val905del | |
| NM_001382805.1:c.2590_2592del | NP_001369734.1:p.Val864del | |
| NM_001382806.1:c.2503_2505del | NP_001369735.1:p.Val835del | |
| NM_004448.4:c.3541_3543del MANE Select | NP_004439.2:p.Val1181del | |
| NR_110535.2:n.3779_3781del |