Linked Data
gnomAD v4:
8-118111435-CGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111436_118111437del , CM000670.2:g.118111436_118111437del | GRCh38 |
| NC_000008.10:g.119123675_119123676del , CM000670.1:g.119123675_119123676del | GRCh37 |
| NC_000008.9:g.119192856_119192857del | NCBI36 |
| NG_007455.2:g.5383_5384del , LRG_493:g.5383_5384del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-391_-390del MANE Select | ENSP00000367446.3:n.-391_-390del | |
| ENST00000378204.6:c.-391_-390del | ENSP00000367446.2:n.-391_-390del | |
| NM_000127.2:c.-391_-390del , LRG_493t1:c.-391_-390del | NP_000118.2:n.-391_-390del | |
| NM_000127.3:c.-391_-390del MANE Select | NP_000118.2:n.-391_-390del |