Linked Data
ClinVar Variation Id:
2637482
ClinVar RCV Id:
RCV003404780
dbSNP Id:
rs1902035067
gnomAD v4:
16-172908-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172910_172911del , CM000678.2:g.172910_172911del | GRCh38 |
| NC_000016.9:g.222909_222910del , CM000678.1:g.222909_222910del | GRCh37 |
| NC_000016.8:g.162909_162910del | NCBI36 |
| NG_000006.1:g.33773_33774del | |
| NG_059186.1:g.1260_1261del | |
| NG_059271.1:g.5064_5065del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-3_-2del MANE Select | ENSP00000251595.6:n.-3_-2del | |
| ENST00000251595.10:c.-3_-2del | ENSP00000251595.6:n.-3_-2del | |
| ENST00000397806.1:c.-50_-49del | ENSP00000380908.1:n.-50_-49del | |
| ENST00000482565.1:n.17_18del | ||
| NM_000517.4:c.-3_-2del | NP_000508.1:n.-3_-2del | |
| NM_000517.6:c.-3_-2del MANE Select | NP_000508.1:n.-3_-2del |