Linked Data
gnomAD v4:
10-80273492-AATTCAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273493_80273498del , CM000672.2:g.80273493_80273498del | GRCh38 |
| NC_000010.10:g.82033249_82033254del , CM000672.1:g.82033249_82033254del | GRCh37 |
| NC_000010.9:g.82023229_82023234del | NCBI36 |
| NG_008083.1:g.21181_21186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*283_*288del MANE Select | ENSP00000361287.3:n.*283_*288del | |
| ENST00000372213.7:c.*283_*288del | ENSP00000361287.3:n.*283_*288del | |
| ENST00000480845.1:n.620+83_620+88del | ||
| ENST00000485270.5:n.983_988del | ||
| NM_000429.2:c.*283_*288del | NP_000420.1:n.*283_*288del | |
| XM_005269842.3:c.*283_*288del | XP_005269899.1:n.*283_*288del | |
| XM_005269843.3:c.*283_*288del | XP_005269900.1:n.*283_*288del | |
| NM_000429.3:c.*283_*288del MANE Select | NP_000420.1:n.*283_*288del |