Linked Data
dbSNP Id:
rs1567916476
gnomAD v2:
17-37883660-GA-G
gnomAD v4:
17-39727407-GA-G
MyVariant Identifiers:
chr17:g.37883661del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727409del , CM000679.2:g.39727409del | GRCh38 |
| NC_000017.10:g.37883662del , CM000679.1:g.37883662del | GRCh37 |
| NC_000017.9:g.35137188del | NCBI36 |
| NG_007503.1:g.44270del , LRG_724:g.44270del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3274del MANE Select | ENSP00000269571.4:p.Met1092TrpfsTer? | |
| ENST00000269571.9:c.3274del | ENSP00000269571.4:p.Met1092TrpfsTer? | |
| ENST00000406381.6:c.3184del | ENSP00000385185.2:p.Met1062TrpfsTer? | |
| ENST00000445658.6:c.2446del | ENSP00000404047.2:p.Met816TrpfsTer? | |
| ENST00000541774.5:c.3229del | ENSP00000446466.1:p.Met1077TrpfsTer? | |
| ENST00000578373.5:c.*3064del | ENSP00000463427.1:n.*3064del | |
| ENST00000584450.5:c.3160-280del | ENSP00000463714.1:n.3160-280del | |
| ENST00000584601.5:c.3184del | ENSP00000462438.1:p.Met1062TrpfsTer? | |
| NM_001005862.2:c.3184del , LRG_724t1:c.3184del | NP_001005862.1:p.Met1062TrpfsTer? | |
| NM_001289936.1:c.3229del , LRG_724t4:c.3229del | NP_001276865.1:p.Met1077TrpfsTer? | |
| NM_001289937.1:c.3160-280del | NP_001276866.1:n.3160-280del | |
| NM_004448.3:c.3274del , LRG_724t2:c.3274del | NP_004439.2:p.Met1092TrpfsTer? | |
| NR_110535.1:n.3598del | ||
| XM_024450641.1:c.3412del | XP_024306409.1:p.Met1138TrpfsTer? | |
| XM_024450642.1:c.3367del | XP_024306410.1:p.Met1123TrpfsTer? | |
| XM_024450643.1:c.3322del | XP_024306411.1:p.Met1108TrpfsTer? | |
| NM_001005862.3:c.3184del | NP_001005862.1:p.Met1062TrpfsTer? | |
| NM_001289936.2:c.3229del | NP_001276865.1:p.Met1077TrpfsTer? | |
| NM_001289937.2:c.3160-280del | NP_001276866.1:n.3160-280del | |
| NM_001382782.1:c.3184del | NP_001369711.1:p.Met1062TrpfsTer? | |
| NM_001382783.1:c.3184del | NP_001369712.1:p.Met1062TrpfsTer? | |
| NM_001382784.1:c.3391del | NP_001369713.1:p.Met1131TrpfsTer? | |
| NM_001382785.1:c.3376del | NP_001369714.1:p.Met1126TrpfsTer? | |
| NM_001382786.1:c.3355del | NP_001369715.1:p.Met1119TrpfsTer? | |
| NM_001382787.1:c.3349del | NP_001369716.1:p.Met1117TrpfsTer? | |
| NM_001382788.1:c.3304del | NP_001369717.1:p.Met1102TrpfsTer? | |
| NM_001382789.1:c.3295del | NP_001369718.1:p.Met1099TrpfsTer? | |
| NM_001382790.1:c.3271del | NP_001369719.1:p.Met1091TrpfsTer? | |
| NM_001382791.1:c.3265del | NP_001369720.1:p.Met1089TrpfsTer? | |
| NM_001382792.1:c.3238del | NP_001369721.1:p.Met1080TrpfsTer? | |
| NM_001382793.1:c.3232del | NP_001369722.1:p.Met1078TrpfsTer? | |
| NM_001382794.1:c.3232del | NP_001369723.1:p.Met1078TrpfsTer? | |
| NM_001382795.1:c.3226del | NP_001369724.1:p.Met1076TrpfsTer? | |
| NM_001382796.1:c.3187del | NP_001369725.1:p.Met1063TrpfsTer? | |
| NM_001382797.1:c.3175del | NP_001369726.1:p.Met1059TrpfsTer? | |
| NM_001382798.1:c.3118del | NP_001369727.1:p.Met1040TrpfsTer? | |
| NM_001382799.1:c.3094del | NP_001369728.1:p.Met1032TrpfsTer? | |
| NM_001382800.1:c.3088del | NP_001369729.1:p.Met1030TrpfsTer? | |
| NM_001382801.1:c.3070del | NP_001369730.1:p.Met1024TrpfsTer? | |
| NM_001382802.1:c.3016del | NP_001369731.1:p.Met1006TrpfsTer? | |
| NM_001382803.1:c.3118-280del | NP_001369732.1:n.3118-280del | |
| NM_001382804.1:c.2446del | NP_001369733.1:p.Met816TrpfsTer? | |
| NM_001382805.1:c.2323del | NP_001369734.1:p.Met775TrpfsTer? | |
| NM_001382806.1:c.2236del | NP_001369735.1:p.Met746TrpfsTer? | |
| NM_004448.4:c.3274del MANE Select | NP_004439.2:p.Met1092TrpfsTer? | |
| NR_110535.2:n.3512del |