Linked Data
gnomAD v4:
10-80275355-GACTCCACTCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275356_80275367del , CM000672.2:g.80275356_80275367del | GRCh38 |
| NC_000010.10:g.82035112_82035123del , CM000672.1:g.82035112_82035123del | GRCh37 |
| NC_000010.9:g.82025092_82025103del | NCBI36 |
| NG_008083.1:g.19312_19323del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.769-168_769-157del MANE Select | ENSP00000361287.3:n.769-168_769-157del | |
| ENST00000372213.7:c.769-168_769-157del | ENSP00000361287.3:n.769-168_769-157del | |
| ENST00000485270.5:n.113_124del | ||
| NM_000429.2:c.769-168_769-157del | NP_000420.1:n.769-168_769-157del | |
| XM_005269842.3:c.769-168_769-157del | XP_005269899.1:n.769-168_769-157del | |
| XM_005269843.3:c.646-168_646-157del | XP_005269900.1:n.646-168_646-157del | |
| NM_000429.3:c.769-168_769-157del MANE Select | NP_000420.1:n.769-168_769-157del |