Linked Data
ClinVar Variation Id:
314113
ClinVar RCV Id:
RCV000278903
dbSNP Id:
rs10594595
gnomAD v2:
14-74168647-TA-T
gnomAD v3:
14-73701944-TA-T
gnomAD v4:
14-73701944-TA-T
COSMIC:
COSN20111459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73701958del , CM000676.2:g.73701958del | GRCh38 |
| NC_000014.8:g.74168661del , CM000676.1:g.74168661del | GRCh37 |
| NC_000014.7:g.73238414del | NCBI36 |
| NG_028083.1:g.62084del | |
| NG_028083.2:g.62084del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553645.7:c.*6016del MANE Select | ENSP00000452037.1:n.*6016del | |
| ENST00000553645.6:c.*6016del | ENSP00000452037.1:n.*6016del | |
| NM_001201366.1:c.*6016del | NP_001188295.1:n.*6016del | |
| NM_031427.3:c.*6016del | NP_113615.2:n.*6016del | |
| NM_031427.4:c.*6016del MANE Select | NP_113615.2:n.*6016del | |
| NM_001201366.2:c.*6016del | NP_001188295.1:n.*6016del |