Linked Data
gnomAD v4:
4-71030586-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030587del , CM000666.2:g.71030587del | GRCh38 |
| NC_000004.11:g.71896304del , CM000666.1:g.71896304del | GRCh37 |
| NC_000004.10:g.72115168del | NCBI36 |
| NG_023303.1:g.42040del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1209del MANE Select | ENSP00000286648.5:n.*1209del | |
| ENST00000286648.9:c.*1209del | ENSP00000286648.5:n.*1209del | |
| ENST00000503359.5:c.*1936del | ENSP00000426389.1:n.*1936del | |
| ENST00000504730.5:c.*1276del | ENSP00000425578.1:n.*1276del | |
| ENST00000504952.1:c.*1135del | ENSP00000421508.1:n.*1135del | |
| NM_000788.2:c.*1209del | NP_000779.1:n.*1209del | |
| NM_000788.3:c.*1209del MANE Select | NP_000779.1:n.*1209del |