Linked Data
gnomAD v4:
8-118111416-AAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111417_118111419del , CM000670.2:g.118111417_118111419del | GRCh38 |
| NC_000008.10:g.119123656_119123658del , CM000670.1:g.119123656_119123658del | GRCh37 |
| NC_000008.9:g.119192837_119192839del | NCBI36 |
| NG_007455.2:g.5401_5403del , LRG_493:g.5401_5403del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-373_-371del MANE Select | ENSP00000367446.3:n.-373_-371del | |
| ENST00000378204.6:c.-373_-371del | ENSP00000367446.2:n.-373_-371del | |
| NM_000127.2:c.-373_-371del , LRG_493t1:c.-373_-371del | NP_000118.2:n.-373_-371del | |
| NM_000127.3:c.-373_-371del MANE Select | NP_000118.2:n.-373_-371del |