Linked Data
gnomAD v4:
17-4898466-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898469del , CM000679.2:g.4898469del | GRCh38 |
| NC_000017.10:g.4801764del , CM000679.1:g.4801764del | GRCh37 |
| NC_000017.9:g.4742543del | NCBI36 |
| NG_008029.2:g.9609del | |
| NG_028005.1:g.70130del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*269del MANE Select | ENSP00000497829.1:n.*269del | |
| ENST00000649830.1:c.*387del | ENSP00000496907.1:n.*387del | |
| ENST00000652550.1:n.1477del | ||
| ENST00000293780.4:c.*269del | ENSP00000293780.4:n.*269del | |
| ENST00000572438.1:n.1437del | ||
| NM_000080.3:c.*269del | NP_000071.1:n.*269del | |
| NM_000080.4:c.*269del MANE Select | NP_000071.1:n.*269del | |
| XM_017024115.1:c.*269del | XP_016879604.1:n.*269del |