Linked Data
dbSNP Id:
rs1851443075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538937_133538938del , CM000672.2:g.133538937_133538938del | GRCh38 |
| NC_000010.10:g.135352441_135352442del , CM000672.1:g.135352441_135352442del | GRCh37 |
| NC_000010.9:g.135202431_135202432del | NCBI36 |
| NG_008383.1:g.16575_16576del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1455_1456del MANE Select | ENSP00000252945.3:p.Tyr485Ter | |
| ENST00000252945.7:c.1455_1456del | ENSP00000252945.3:p.Tyr485Ter | |
| ENST00000368520.1:n.1358+1045_1358+1046del | ||
| ENST00000463117.6:c.1455_1456del | ENSP00000440689.1:p.Tyr485Ter | |
| ENST00000469258.1:n.551_552del | ||
| NM_000773.3:c.1455_1456del | NP_000764.1:p.Tyr485Ter | |
| NM_000773.4:c.1455_1456del MANE Select | NP_000764.1:p.Tyr485Ter |