Linked Data
ClinVar Variation Id:
376251
ClinVar RCV Id:
RCV000421502
dbSNP Id:
rs121913262
COSMIC:
COSM12401
PubMed:
PMID:25157968
CIViC:
CA16602704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54285925_54285933del , CM000666.2:g.54285925_54285933del | GRCh38 |
| NC_000004.11:g.55152092_55152100del , CM000666.1:g.55152092_55152100del | GRCh37 |
| NC_000004.10:g.54846849_54846857del | NCBI36 |
| NG_009250.1:g.61829_61837del , LRG_309:g.61829_61837del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257290.10:c.2524_2532del MANE Select | ENSP00000257290.5:p.Asp842_Met844del | |
| ENST00000257290.9:c.2524_2532del | ENSP00000257290.5:p.Asp842_Met844del | |
| ENST00000507166.5:c.1804_1812del | ENSP00000423325.1:p.Asp602_Met604del | |
| NM_006206.4:c.2524_2532del , LRG_309t1:c.2524_2532del | NP_006197.1:p.Asp842_Met844del | |
| XM_005265743.1:c.2524_2532del | XP_005265800.1:p.Asp842_Met844del | |
| XM_006714039.2:c.2599_2607del | XP_006714102.1:p.Asp867_Met869del | |
| XM_011534385.1:c.2524_2532del | XP_011532687.1:p.Asp842_Met844del | |
| XM_011534386.1:c.2524_2532del | XP_011532688.1:p.Asp842_Met844del | |
| NM_001347828.1:c.2599_2607del | NP_001334757.1:p.Asp867_Met869del | |
| NM_001347829.1:c.2524_2532del | NP_001334758.1:p.Asp842_Met844del | |
| NM_001347830.1:c.2563_2571del | NP_001334759.1:p.Asp855_Met857del | |
| NM_006206.5:c.2524_2532del | NP_006197.1:p.Asp842_Met844del | |
| NM_006206.6:c.2524_2532del MANE Select | NP_006197.1:p.Asp842_Met844del | |
| NM_001347828.2:c.2599_2607del | NP_001334757.1:p.Asp867_Met869del | |
| NM_001347829.2:c.2524_2532del | NP_001334758.1:p.Asp842_Met844del | |
| NM_001347830.2:c.2563_2571del | NP_001334759.1:p.Asp855_Met857del |