Linked Data
dbSNP Id:
rs1740668284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030631_71030634del , CM000666.2:g.71030631_71030634del | GRCh38 |
| NC_000004.11:g.71896348_71896351del , CM000666.1:g.71896348_71896351del | GRCh37 |
| NC_000004.10:g.72115212_72115215del | NCBI36 |
| NG_023303.1:g.42084_42087del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1253_*1256del MANE Select | ENSP00000286648.5:n.*1253_*1256del | |
| ENST00000286648.9:c.*1253_*1256del | ENSP00000286648.5:n.*1253_*1256del | |
| ENST00000503359.5:c.*1980_*1983del | ENSP00000426389.1:n.*1980_*1983del | |
| ENST00000504730.5:c.*1320_*1323del | ENSP00000425578.1:n.*1320_*1323del | |
| ENST00000504952.1:c.*1179_*1182del | ENSP00000421508.1:n.*1179_*1182del | |
| NM_000788.2:c.*1253_*1256del | NP_000779.1:n.*1253_*1256del | |
| NM_000788.3:c.*1253_*1256del MANE Select | NP_000779.1:n.*1253_*1256del |