Linked Data
dbSNP Id:
rs778507254
ExAC:
12:52845434 ACT / A
gnomAD v2:
12-52845434-ACT-A
gnomAD v4:
12-52451650-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451653_52451654del , CM000674.2:g.52451653_52451654del | GRCh38 |
| NC_000012.11:g.52845437_52845438del , CM000674.1:g.52845437_52845438del | GRCh37 |
| NC_000012.10:g.51131704_51131705del | NCBI36 |
| NG_008299.1:g.5475_5476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.427_428del MANE Select | ENSP00000252252.3:p.Leu144ProfsTer9 | |
| ENST00000252252.3:c.427_428del | ENSP00000252252.3:p.Leu144ProfsTer9 | |
| NM_005555.3:c.427_428del | NP_005546.2:p.Leu144ProfsTer9 | |
| NM_005555.4:c.427_428del MANE Select | NP_005546.2:p.Leu144ProfsTer9 |