Linked Data
dbSNP Id:
rs1740666784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030561_71030562del , CM000666.2:g.71030561_71030562del | GRCh38 |
| NC_000004.11:g.71896278_71896279del , CM000666.1:g.71896278_71896279del | GRCh37 |
| NC_000004.10:g.72115142_72115143del | NCBI36 |
| NG_023303.1:g.42014_42015del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1183_*1184del MANE Select | ENSP00000286648.5:n.*1183_*1184del | |
| ENST00000286648.9:c.*1183_*1184del | ENSP00000286648.5:n.*1183_*1184del | |
| ENST00000503359.5:c.*1910_*1911del | ENSP00000426389.1:n.*1910_*1911del | |
| ENST00000504730.5:c.*1250_*1251del | ENSP00000425578.1:n.*1250_*1251del | |
| ENST00000504952.1:c.*1109_*1110del | ENSP00000421508.1:n.*1109_*1110del | |
| NM_000788.2:c.*1183_*1184del | NP_000779.1:n.*1183_*1184del | |
| NM_000788.3:c.*1183_*1184del MANE Select | NP_000779.1:n.*1183_*1184del |