Linked Data
gnomAD v2:
17-37884217-CG-C
gnomAD v4:
17-39727964-CG-C
MyVariant Identifiers:
chr17:g.37884218del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727970del , CM000679.2:g.39727970del | GRCh38 |
| NC_000017.10:g.37884223del , CM000679.1:g.37884223del | GRCh37 |
| NC_000017.9:g.35137749del | NCBI36 |
| NG_007503.1:g.44831del , LRG_724:g.44831del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3694del MANE Select | ENSP00000269571.4:p.Ala1232LeufsTer? | |
| ENST00000269571.9:c.3694del | ENSP00000269571.4:p.Ala1232LeufsTer? | |
| ENST00000406381.6:c.3604del | ENSP00000385185.2:p.Ala1202LeufsTer? | |
| ENST00000445658.6:c.2866del | ENSP00000404047.2:p.Ala956LeufsTer? | |
| ENST00000541774.5:c.3649del | ENSP00000446466.1:p.Ala1217LeufsTer? | |
| ENST00000578373.5:c.*3484del | ENSP00000463427.1:n.*3484del | |
| ENST00000584450.5:c.*273del | ENSP00000463714.1:n.*273del | |
| ENST00000584601.5:c.3604del | ENSP00000462438.1:p.Ala1202LeufsTer? | |
| NM_001005862.2:c.3604del , LRG_724t1:c.3604del | NP_001005862.1:p.Ala1202LeufsTer? | |
| NM_001289936.1:c.3649del , LRG_724t4:c.3649del | NP_001276865.1:p.Ala1217LeufsTer? | |
| NM_001289937.1:c.*273del | NP_001276866.1:n.*273del | |
| NM_004448.3:c.3694del , LRG_724t2:c.3694del | NP_004439.2:p.Ala1232LeufsTer? | |
| NR_110535.1:n.4018del | ||
| XM_024450641.1:c.3832del | XP_024306409.1:p.Ala1278LeufsTer? | |
| XM_024450642.1:c.3787del | XP_024306410.1:p.Ala1263LeufsTer? | |
| XM_024450643.1:c.3742del | XP_024306411.1:p.Ala1248LeufsTer? | |
| NM_001005862.3:c.3604del | NP_001005862.1:p.Ala1202LeufsTer? | |
| NM_001289936.2:c.3649del | NP_001276865.1:p.Ala1217LeufsTer? | |
| NM_001289937.2:c.*273del | NP_001276866.1:n.*273del | |
| NM_001382782.1:c.3604del | NP_001369711.1:p.Ala1202LeufsTer? | |
| NM_001382783.1:c.3604del | NP_001369712.1:p.Ala1202LeufsTer? | |
| NM_001382784.1:c.3811del | NP_001369713.1:p.Ala1271LeufsTer? | |
| NM_001382785.1:c.3796del | NP_001369714.1:p.Ala1266LeufsTer? | |
| NM_001382786.1:c.3775del | NP_001369715.1:p.Ala1259LeufsTer? | |
| NM_001382787.1:c.3769del | NP_001369716.1:p.Ala1257LeufsTer? | |
| NM_001382788.1:c.3724del | NP_001369717.1:p.Ala1242LeufsTer? | |
| NM_001382789.1:c.3715del | NP_001369718.1:p.Ala1239LeufsTer? | |
| NM_001382790.1:c.3691del | NP_001369719.1:p.Ala1231LeufsTer? | |
| NM_001382791.1:c.3685del | NP_001369720.1:p.Ala1229LeufsTer? | |
| NM_001382792.1:c.3658del | NP_001369721.1:p.Ala1220LeufsTer? | |
| NM_001382793.1:c.3652del | NP_001369722.1:p.Ala1218LeufsTer? | |
| NM_001382794.1:c.3652del | NP_001369723.1:p.Ala1218LeufsTer? | |
| NM_001382795.1:c.3646del | NP_001369724.1:p.Ala1216LeufsTer? | |
| NM_001382796.1:c.3607del | NP_001369725.1:p.Ala1203LeufsTer? | |
| NM_001382797.1:c.3595del | NP_001369726.1:p.Ala1199LeufsTer? | |
| NM_001382798.1:c.3538del | NP_001369727.1:p.Ala1180LeufsTer? | |
| NM_001382799.1:c.3514del | NP_001369728.1:p.Ala1172LeufsTer? | |
| NM_001382800.1:c.3508del | NP_001369729.1:p.Ala1170LeufsTer? | |
| NM_001382801.1:c.3490del | NP_001369730.1:p.Ala1164LeufsTer? | |
| NM_001382802.1:c.3436del | NP_001369731.1:p.Ala1146LeufsTer? | |
| NM_001382803.1:c.*273del | NP_001369732.1:n.*273del | |
| NM_001382804.1:c.2866del | NP_001369733.1:p.Ala956LeufsTer? | |
| NM_001382805.1:c.2743del | NP_001369734.1:p.Ala915LeufsTer? | |
| NM_001382806.1:c.2656del | NP_001369735.1:p.Ala886LeufsTer? | |
| NM_004448.4:c.3694del MANE Select | NP_004439.2:p.Ala1232LeufsTer? | |
| NR_110535.2:n.3932del |