Linked Data
ClinVar Variation Id:
376253
ClinVar RCV Id:
RCV000439347
dbSNP Id:
rs121913267
COSMIC:
COSM12400
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54285928_54285939del , CM000666.2:g.54285928_54285939del | GRCh38 |
| NC_000004.11:g.55152095_55152106del , CM000666.1:g.55152095_55152106del | GRCh37 |
| NC_000004.10:g.54846852_54846863del | NCBI36 |
| NG_009250.1:g.61832_61843del , LRG_309:g.61832_61843del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257290.10:c.2527_2538del MANE Select | ENSP00000257290.5:p.Ile843_Asp846del | |
| ENST00000257290.9:c.2527_2538del | ENSP00000257290.5:p.Ile843_Asp846del | |
| ENST00000507166.5:c.1807_1818del | ENSP00000423325.1:p.Ile603_Asp606del | |
| NM_006206.4:c.2527_2538del , LRG_309t1:c.2527_2538del | NP_006197.1:p.Ile843_Asp846del | |
| XM_005265743.1:c.2527_2538del | XP_005265800.1:p.Ile843_Asp846del | |
| XM_006714039.2:c.2602_2613del | XP_006714102.1:p.Ile868_Asp871del | |
| XM_011534385.1:c.2527_2538del | XP_011532687.1:p.Ile843_Asp846del | |
| XM_011534386.1:c.2527_2538del | XP_011532688.1:p.Ile843_Asp846del | |
| NM_001347828.1:c.2602_2613del | NP_001334757.1:p.Ile868_Asp871del | |
| NM_001347829.1:c.2527_2538del | NP_001334758.1:p.Ile843_Asp846del | |
| NM_001347830.1:c.2566_2577del | NP_001334759.1:p.Ile856_Asp859del | |
| NM_006206.5:c.2527_2538del | NP_006197.1:p.Ile843_Asp846del | |
| NM_006206.6:c.2527_2538del MANE Select | NP_006197.1:p.Ile843_Asp846del | |
| NM_001347828.2:c.2602_2613del | NP_001334757.1:p.Ile868_Asp871del | |
| NM_001347829.2:c.2527_2538del | NP_001334758.1:p.Ile843_Asp846del | |
| NM_001347830.2:c.2566_2577del | NP_001334759.1:p.Ile856_Asp859del |