Linked Data
gnomAD v4:
8-118111426-CTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111427_118111429del , CM000670.2:g.118111427_118111429del | GRCh38 |
| NC_000008.10:g.119123666_119123668del , CM000670.1:g.119123666_119123668del | GRCh37 |
| NC_000008.9:g.119192847_119192849del | NCBI36 |
| NG_007455.2:g.5391_5393del , LRG_493:g.5391_5393del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-383_-381del MANE Select | ENSP00000367446.3:n.-383_-381del | |
| ENST00000378204.6:c.-383_-381del | ENSP00000367446.2:n.-383_-381del | |
| NM_000127.2:c.-383_-381del , LRG_493t1:c.-383_-381del | NP_000118.2:n.-383_-381del | |
| NM_000127.3:c.-383_-381del MANE Select | NP_000118.2:n.-383_-381del |