Linked Data
dbSNP Id:
rs1851439392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538832_133538833del , CM000672.2:g.133538832_133538833del | GRCh38 |
| NC_000010.10:g.135352336_135352337del , CM000672.1:g.135352336_135352337del | GRCh37 |
| NC_000010.9:g.135202326_135202327del | NCBI36 |
| NG_008383.1:g.16470_16471del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1350_1351del MANE Select | ENSP00000252945.3:p.Leu450PhefsTer9 | |
| ENST00000252945.7:c.1350_1351del | ENSP00000252945.3:p.Leu450PhefsTer9 | |
| ENST00000368520.1:n.1358+940_1358+941del | ||
| ENST00000463117.6:c.1350_1351del | ENSP00000440689.1:p.Leu450PhefsTer9 | |
| ENST00000469258.1:n.446_447del | ||
| NM_000773.3:c.1350_1351del | NP_000764.1:p.Leu450PhefsTer9 | |
| NM_000773.4:c.1350_1351del MANE Select | NP_000764.1:p.Leu450PhefsTer9 |