Linked Data
gnomAD v4:
1-68429899-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429902del , CM000663.2:g.68429902del | GRCh38 |
| NC_000001.10:g.68895585del , CM000663.1:g.68895585del | GRCh37 |
| NC_000001.9:g.68668173del | NCBI36 |
| NG_008472.1:g.25060del | |
| NG_008472.2:g.25060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1478del MANE Select | ENSP00000262340.5:p.Pro493GlnfsTer11 | |
| ENST00000262340.5:c.1478del | ENSP00000262340.5:p.Pro493GlnfsTer11 | |
| NM_000329.2:c.1478del | NP_000320.1:p.Pro493GlnfsTer11 | |
| XM_017002027.1:c.1202del | XP_016857516.1:p.Pro401GlnfsTer11 | |
| NM_000329.3:c.1478del MANE Select | NP_000320.1:p.Pro493GlnfsTer11 |