Linked Data
dbSNP Id:
rs754670867
ExAC:
2:84652705 AC / A
gnomAD v2:
2-84652705-AC-A
gnomAD v4:
2-84425581-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425582del , CM000664.2:g.84425582del | GRCh38 |
| NC_000002.11:g.84652706del , CM000664.1:g.84652706del | GRCh37 |
| NC_000002.10:g.84506217del | NCBI36 |
| NG_016755.1:g.38881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.847del MANE Select | ENSP00000377446.2:p.Val283CysfsTer7 | |
| ENST00000651342.1:c.*287del | ENSP00000498471.1:n.*287del | |
| ENST00000393868.6:c.847del | ENSP00000377446.2:p.Val283CysfsTer7 | |
| ENST00000484365.1:n.1355del | ||
| ENST00000487809.1:n.594del | ||
| ENST00000491123.5:n.693del | ||
| NM_003849.3:c.847del | NP_003840.2:p.Val283CysfsTer7 | |
| NM_003849.4:c.847del MANE Select | NP_003840.2:p.Val283CysfsTer7 |