Linked Data
gnomAD v4:
11-637494-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.637497del , CM000673.2:g.637497del | GRCh38 |
| NC_000011.9:g.637497del , CM000673.1:g.637497del | GRCh37 |
| NC_000011.8:g.627497del | NCBI36 |
| NG_021241.1:g.5193del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.193del MANE Select | ENSP00000176183.5:p.Leu65CysfsTer10 | |
| ENST00000176183.5:c.193del | ENSP00000176183.5:p.Leu65CysfsTer10 | |
| NM_000797.3:c.193del | NP_000788.2:p.Leu65CysfsTer10 | |
| NM_000797.4:c.193del MANE Select | NP_000788.2:p.Leu65CysfsTer10 |