Linked Data
gnomAD v4:
6-31268902-TGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268903_31268905del , CM000668.2:g.31268903_31268905del | GRCh38 |
| NC_000006.11:g.31236680_31236682del , CM000668.1:g.31236680_31236682del | GRCh37 |
| NC_000006.10:g.31344659_31344661del | NCBI36 |
| NG_029422.2:g.8227_8229del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*264_*266del MANE Select | ENSP00000365402.5:n.*264_*266del | |
| ENST00000376228.9:c.*264_*266del | ENSP00000365402.5:n.*264_*266del | |
| ENST00000376237.8:c.*952_*954del | ENSP00000365412.4:n.*952_*954del | |
| ENST00000383329.7:c.*264_*266del | ENSP00000372819.3:n.*264_*266del | |
| ENST00000466892.5:n.598_600del | ||
| ENST00000470363.5:n.1123_1125del | ||
| ENST00000487245.5:n.1724_1726del | ||
| NM_002117.5:c.*264_*266del | NP_002108.4:n.*264_*266del | |
| NM_002117.6:c.*264_*266del MANE Select | NP_002108.4:n.*264_*266del |