Linked Data
gnomAD v4:
12-52451685-G-GGGGGCACACAGGGAAGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451686_52451703dup , CM000674.2:g.52451686_52451703dup | GRCh38 |
| NC_000012.11:g.52845470_52845487dup , CM000674.1:g.52845470_52845487dup | GRCh37 |
| NC_000012.10:g.51131737_51131754dup | NCBI36 |
| NG_008299.1:g.5424_5441dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.376_393dup MANE Select | ENSP00000252252.3:p.Pro131_Pro132insGlyPheProValCysPro | |
| ENST00000252252.3:c.376_393dup | ENSP00000252252.3:p.Pro131_Pro132insGlyPheProValCysPro | |
| NM_005555.3:c.376_393dup | NP_005546.2:p.Pro131_Pro132insGlyPheProValCysPro | |
| NM_005555.4:c.376_393dup MANE Select | NP_005546.2:p.Pro131_Pro132insGlyPheProValCysPro |