Linked Data
gnomAD v4:
8-23212160-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212161del , CM000670.2:g.23212161del | GRCh38 |
| NC_000008.10:g.23069674del , CM000670.1:g.23069674del | GRCh37 |
| NC_000008.9:g.23125619del | NCBI36 |
| NG_032107.1:g.18007del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.358del MANE Select | ENSP00000221132.3:p.Thr120HisfsTer? | |
| ENST00000221132.7:c.358del | ENSP00000221132.3:p.Thr120HisfsTer? | |
| ENST00000524158.5:c.-249del | ENSP00000428884.1:n.-249del | |
| ENST00000613472.1:c.32-9502del | ENSP00000480778.1:n.32-9502del | |
| NM_003844.3:c.358del | NP_003835.3:p.Thr120HisfsTer? | |
| NM_003844.4:c.358del MANE Select | NP_003835.3:p.Thr120HisfsTer? |