Linked Data
gnomAD v4:
18-77268542-G-GCCTCCTCCTCCTCCTCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268553_77268570dup , CM000680.2:g.77268553_77268570dup | GRCh38 |
| NC_000018.9:g.74980509_74980526dup , CM000680.1:g.74980509_74980526dup | GRCh37 |
| NC_000018.8:g.73109497_73109514dup | NCBI36 |
| NG_009223.1:g.23502_23519dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-32_733-15dup MANE Select | ENSP00000299727.3:n.733-32_733-15dup | |
| ENST00000299727.4:c.733-32_733-15dup | ENSP00000299727.3:n.733-32_733-15dup | |
| NM_001480.3:c.733-32_733-15dup | NP_001471.2:n.733-32_733-15dup | |
| NM_001480.4:c.733-32_733-15dup MANE Select | NP_001471.2:n.733-32_733-15dup |