Linked Data
gnomAD v4:
20-23047794-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047796del , CM000682.2:g.23047796del | GRCh38 |
| NC_000020.10:g.23028433del , CM000682.1:g.23028433del | GRCh37 |
| NC_000020.9:g.22976433del | NCBI36 |
| NG_012027.1:g.6870del , LRG_168:g.6870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1710del MANE Select | ENSP00000366307.2:p.Thr571ArgfsTer? | |
| ENST00000377103.2:c.1710del | ENSP00000366307.2:p.Thr571ArgfsTer? | |
| NM_000361.2:c.1710del , LRG_168t1:c.1710del | NP_000352.1:p.Thr571ArgfsTer? | |
| NM_000361.3:c.1710del MANE Select | NP_000352.1:p.Thr571ArgfsTer? |