Linked Data
gnomAD v4:
17-4898676-CCTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898679_4898681del , CM000679.2:g.4898679_4898681del | GRCh38 |
| NC_000017.10:g.4801974_4801976del , CM000679.1:g.4801974_4801976del | GRCh37 |
| NC_000017.9:g.4742753_4742755del | NCBI36 |
| NG_008029.2:g.9397_9399del | |
| NG_028005.1:g.70340_70342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*57_*59del MANE Select | ENSP00000497829.1:n.*57_*59del | |
| ENST00000649830.1:c.*175_*177del | ENSP00000496907.1:n.*175_*177del | |
| ENST00000652550.1:n.1265_1267del | ||
| ENST00000293780.4:c.*57_*59del | ENSP00000293780.4:n.*57_*59del | |
| ENST00000572438.1:n.1225_1227del | ||
| NM_000080.3:c.*57_*59del | NP_000071.1:n.*57_*59del | |
| NM_000080.4:c.*57_*59del MANE Select | NP_000071.1:n.*57_*59del | |
| XM_017024115.1:c.*57_*59del | XP_016879604.1:n.*57_*59del |