Linked Data
gnomAD v4:
12-57763682-A-AGGGAAGAGATGCAAATGGGTGGGGGGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763685_57763712dup , CM000674.2:g.57763685_57763712dup | GRCh38 |
| NC_000012.11:g.58157468_58157495dup , CM000674.1:g.58157468_58157495dup | GRCh37 |
| NC_000012.10:g.56443735_56443762dup | NCBI36 |
| NG_007076.1:g.8484_8511dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1395_1422dup | ENSP00000518840.1:p.Phe475HisfsTer26 | |
| ENST00000713545.1:c.*319_*346dup | ENSP00000518841.1:n.*319_*346dup | |
| ENST00000228606.9:c.1314_1341dup MANE Select | ENSP00000228606.4:p.Phe448HisfsTer26 | |
| ENST00000228606.8:c.1314_1341dup | ENSP00000228606.4:p.Phe448HisfsTer26 | |
| ENST00000547344.5:n.1453_1480dup | ||
| NM_000785.3:c.1314_1341dup | NP_000776.1:p.Phe448HisfsTer26 | |
| NM_000785.4:c.1314_1341dup MANE Select | NP_000776.1:p.Phe448HisfsTer26 |