Linked Data
gnomAD v4:
8-118932962-GCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118932965_118932967del , CM000670.2:g.118932965_118932967del | GRCh38 |
| NC_000008.10:g.119945204_119945206del , CM000670.1:g.119945204_119945206del | GRCh37 |
| NC_000008.9:g.120014385_120014387del | NCBI36 |
| NG_012202.1:g.24180_24182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.366_368del MANE Select | ENSP00000297350.4:p.Arg122del | |
| ENST00000297350.8:c.366_368del | ENSP00000297350.4:p.Arg122del | |
| ENST00000517352.1:c.366_368del | ENSP00000427924.1:p.Arg122del | |
| NM_002546.3:c.366_368del | NP_002537.3:p.Arg122del | |
| NM_002546.4:c.366_368del MANE Select | NP_002537.3:p.Arg122del |