Linked Data
ClinVar Variation Id:
376249
ClinVar RCV Id:
RCV000428031
dbSNP Id:
rs121913269
COSMIC:
COSM12405
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54285923_54285928del , CM000666.2:g.54285923_54285928del | GRCh38 |
| NC_000004.11:g.55152090_55152095del , CM000666.1:g.55152090_55152095del | GRCh37 |
| NC_000004.10:g.54846847_54846852del | NCBI36 |
| NG_009250.1:g.61827_61832del , LRG_309:g.61827_61832del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257290.10:c.2522_2527del MANE Select | ENSP00000257290.5:p.Arg841_Asp842del | |
| ENST00000257290.9:c.2522_2527del | ENSP00000257290.5:p.Arg841_Asp842del | |
| ENST00000507166.5:c.1802_1807del | ENSP00000423325.1:p.Arg601_Asp602del | |
| NM_006206.4:c.2522_2527del , LRG_309t1:c.2522_2527del | NP_006197.1:p.Arg841_Asp842del | |
| XM_005265743.1:c.2522_2527del | XP_005265800.1:p.Arg841_Asp842del | |
| XM_006714039.2:c.2597_2602del | XP_006714102.1:p.Arg866_Asp867del | |
| XM_011534385.1:c.2522_2527del | XP_011532687.1:p.Arg841_Asp842del | |
| XM_011534386.1:c.2522_2527del | XP_011532688.1:p.Arg841_Asp842del | |
| NM_001347828.1:c.2597_2602del | NP_001334757.1:p.Arg866_Asp867del | |
| NM_001347829.1:c.2522_2527del | NP_001334758.1:p.Arg841_Asp842del | |
| NM_001347830.1:c.2561_2566del | NP_001334759.1:p.Arg854_Asp855del | |
| NM_006206.5:c.2522_2527del | NP_006197.1:p.Arg841_Asp842del | |
| NM_006206.6:c.2522_2527del MANE Select | NP_006197.1:p.Arg841_Asp842del | |
| NM_001347828.2:c.2597_2602del | NP_001334757.1:p.Arg866_Asp867del | |
| NM_001347829.2:c.2522_2527del | NP_001334758.1:p.Arg841_Asp842del | |
| NM_001347830.2:c.2561_2566del | NP_001334759.1:p.Arg854_Asp855del |