Linked Data
gnomAD v4:
6-143485196-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485198_143485199del , CM000668.2:g.143485198_143485199del | GRCh38 |
| NC_000006.11:g.143806335_143806336del , CM000668.1:g.143806335_143806336del | GRCh37 |
| NC_000006.10:g.143848028_143848029del | NCBI36 |
| NG_008459.1:g.39418_39419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.988_989del MANE Select | ENSP00000356563.4:p.Asn330ArgfsTer9 | |
| ENST00000367591.4:c.988_989del | ENSP00000356563.4:p.Asn330ArgfsTer9 | |
| ENST00000585848.1:n.127_128del | ||
| NM_003630.2:c.988_989del | NP_003621.1:p.Asn330ArgfsTer9 | |
| NM_003630.3:c.988_989del MANE Select | NP_003621.1:p.Asn330ArgfsTer9 |