Linked Data
gnomAD v4:
8-118111504-GCAGAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111505_118111510del , CM000670.2:g.118111505_118111510del | GRCh38 |
| NC_000008.10:g.119123744_119123749del , CM000670.1:g.119123744_119123749del | GRCh37 |
| NC_000008.9:g.119192925_119192930del | NCBI36 |
| NG_007455.2:g.5310_5315del , LRG_493:g.5310_5315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-464_-459del MANE Select | ENSP00000367446.3:n.-464_-459del | |
| ENST00000378204.6:c.-464_-459del | ENSP00000367446.2:n.-464_-459del | |
| NM_000127.2:c.-464_-459del , LRG_493t1:c.-464_-459del | NP_000118.2:n.-464_-459del | |
| NM_000127.3:c.-464_-459del MANE Select | NP_000118.2:n.-464_-459del |