Linked Data
gnomAD v4:
18-77268542-GCCTCCTCCTCCTCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268556_77268570del , CM000680.2:g.77268556_77268570del | GRCh38 |
| NC_000018.9:g.74980512_74980526del , CM000680.1:g.74980512_74980526del | GRCh37 |
| NC_000018.8:g.73109500_73109514del | NCBI36 |
| NG_009223.1:g.23505_23519del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-29_733-15del MANE Select | ENSP00000299727.3:n.733-29_733-15del | |
| ENST00000299727.4:c.733-29_733-15del | ENSP00000299727.3:n.733-29_733-15del | |
| NM_001480.3:c.733-29_733-15del | NP_001471.2:n.733-29_733-15del | |
| NM_001480.4:c.733-29_733-15del MANE Select | NP_001471.2:n.733-29_733-15del |