Linked Data
dbSNP Id:
rs1753473670
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994600_148994607del , CM000667.2:g.148994600_148994607del | GRCh38 |
| NC_000005.9:g.148374163_148374170del , CM000667.1:g.148374163_148374170del | GRCh37 |
| NC_000005.8:g.148354356_148354363del | NCBI36 |
| NG_007947.2:g.73569_73576del , LRG_269:g.73569_73576del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515425.6:c.*10105_*10112del MANE Select | ENSP00000423660.1:n.*10105_*10112del | |
| ENST00000504690.5:c.*12+9120_*12+9127del | ENSP00000425627.1:n.*12+9120_*12+9127del | |
| ENST00000510350.1:n.231+12275_231+12282del | ||
| NM_024577.3:c.*10105_*10112del , LRG_269t1:c.*10105_*10112del | NP_078853.2:n.*10105_*10112del | |
| NM_024577.4:c.*10105_*10112del MANE Select | NP_078853.2:n.*10105_*10112del |