Linked Data
dbSNP Id:
rs1938613140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516565_52516574del , CM000674.2:g.52516565_52516574del | GRCh38 |
| NC_000012.11:g.52910349_52910358del , CM000674.1:g.52910349_52910358del | GRCh37 |
| NC_000012.10:g.51196616_51196625del | NCBI36 |
| NG_008297.1:g.8886_8895del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+63_1439+72del MANE Select | ENSP00000252242.4:n.1439+63_1439+72del | |
| ENST00000252242.8:c.1439+63_1439+72del | ENSP00000252242.4:n.1439+63_1439+72del | |
| ENST00000548409.5:c.561+63_561+72del | ||
| ENST00000549511.5:n.646+63_646+72del | ||
| ENST00000552629.5:n.1600_1609del | ||
| NM_000424.3:c.1439+63_1439+72del | NP_000415.2:n.1439+63_1439+72del | |
| NM_000424.4:c.1439+63_1439+72del MANE Select | NP_000415.2:n.1439+63_1439+72del |