Linked Data
gnomAD v4:
6-31269066-ACACATTCAGGTGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269068_31269080del , CM000668.2:g.31269068_31269080del | GRCh38 |
| NC_000006.11:g.31236845_31236857del , CM000668.1:g.31236845_31236857del | GRCh37 |
| NC_000006.10:g.31344824_31344836del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*90_*102del MANE Select | ENSP00000365402.5:n.*90_*102del | |
| ENST00000376228.9:c.*90_*102del | ENSP00000365402.5:n.*90_*102del | |
| ENST00000376237.8:c.*778_*790del | ENSP00000365412.4:n.*778_*790del | |
| ENST00000383329.7:c.*90_*102del | ENSP00000372819.3:n.*90_*102del | |
| ENST00000466892.5:n.424_436del | ||
| ENST00000470363.5:n.949_961del | ||
| ENST00000487245.5:n.1550_1562del | ||
| NM_002117.5:c.*90_*102del | NP_002108.4:n.*90_*102del | |
| NM_002117.6:c.*90_*102del MANE Select | NP_002108.4:n.*90_*102del |