Linked Data
gnomAD v4:
4-71030606-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030609del , CM000666.2:g.71030609del | GRCh38 |
| NC_000004.11:g.71896326del , CM000666.1:g.71896326del | GRCh37 |
| NC_000004.10:g.72115190del | NCBI36 |
| NG_023303.1:g.42062del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1231del MANE Select | ENSP00000286648.5:n.*1231del | |
| ENST00000286648.9:c.*1231del | ENSP00000286648.5:n.*1231del | |
| ENST00000503359.5:c.*1958del | ENSP00000426389.1:n.*1958del | |
| ENST00000504730.5:c.*1298del | ENSP00000425578.1:n.*1298del | |
| ENST00000504952.1:c.*1157del | ENSP00000421508.1:n.*1157del | |
| NM_000788.2:c.*1231del | NP_000779.1:n.*1231del | |
| NM_000788.3:c.*1231del MANE Select | NP_000779.1:n.*1231del |