Linked Data
gnomAD v4:
17-4898641-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898646dup , CM000679.2:g.4898646dup | GRCh38 |
| NC_000017.10:g.4801941dup , CM000679.1:g.4801941dup | GRCh37 |
| NC_000017.9:g.4742720dup | NCBI36 |
| NG_008029.2:g.9434dup | |
| NG_028005.1:g.70307dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*94dup MANE Select | ENSP00000497829.1:n.*94dup | |
| ENST00000649830.1:c.*212dup | ENSP00000496907.1:n.*212dup | |
| ENST00000652550.1:n.1302dup | ||
| ENST00000293780.4:c.*94dup | ENSP00000293780.4:n.*94dup | |
| ENST00000572438.1:n.1262dup | ||
| NM_000080.3:c.*94dup | NP_000071.1:n.*94dup | |
| NM_000080.4:c.*94dup MANE Select | NP_000071.1:n.*94dup | |
| XM_017024115.1:c.*94dup | XP_016879604.1:n.*94dup |