Linked Data
ClinVar Variation Id:
221976
ClinVar RCV Id:
RCV000207439
dbSNP Id:
rs869025307
PubMed:
PMID:26762690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482936del , CM000685.2:g.149482936del | GRCh38 |
| NC_000023.10:g.148564467del , CM000685.1:g.148564467del | GRCh37 |
| NC_000023.9:g.148372372del | NCBI36 |
| NG_011900.3:g.27399del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.1463del MANE Select | ENSP00000339801.6:p.Met488ArgfsTer8 | |
| ENST00000651111.1:c.830del | ENSP00000498395.1:p.Met277ArgfsTer8 | |
| ENST00000340855.10:c.1463del | ENSP00000339801.6:p.Met488ArgfsTer8 | |
| ENST00000422081.6:c.830del | ENSP00000477056.1:p.Met277ArgfsTer8 | |
| NM_000202.6:c.1463del | NP_000193.1:p.Met488ArgfsTer8 | |
| NM_001166550.2:c.1193del | NP_001160022.1:p.Met398ArgfsTer8 | |
| NM_000202.7:c.1463del | NP_000193.1:p.Met488ArgfsTer8 | |
| NM_001166550.3:c.1193del | NP_001160022.1:p.Met398ArgfsTer8 | |
| NM_000202.8:c.1463del MANE Select | NP_000193.1:p.Met488ArgfsTer8 | |
| NM_001166550.4:c.1193del | NP_001160022.1:p.Met398ArgfsTer8 |