Linked Data
gnomAD v4:
1-20618464-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20618466del , CM000663.2:g.20618466del | GRCh38 |
| NC_000001.10:g.20944959del , CM000663.1:g.20944959del | GRCh37 |
| NC_000001.9:g.20817546del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.339del MANE Select | ENSP00000364212.3:p.Trp113CysfsTer5 | |
| ENST00000375071.3:c.339del | ENSP00000364212.3:p.Trp113CysfsTer5 | |
| ENST00000461985.1:n.325del | ||
| NM_001785.2:c.339del | NP_001776.1:p.Trp113CysfsTer5 | |
| NM_001785.3:c.339del MANE Select | NP_001776.1:p.Trp113CysfsTer5 |