Linked Data
dbSNP Id:
rs2055155002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785059_18785066del , CM000681.2:g.18785059_18785066del | GRCh38 |
| NC_000019.9:g.18895869_18895876del , CM000681.1:g.18895869_18895876del | GRCh37 |
| NC_000019.8:g.18756869_18756876del | NCBI36 |
| NG_007070.1:g.11239_11246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1744_1751del MANE Select | ENSP00000222271.2:p.Phe582HisfsTer10 | |
| ENST00000222271.6:c.1744_1751del | ENSP00000222271.2:p.Phe582HisfsTer10 | |
| ENST00000425807.1:c.1585_1592del | ENSP00000403792.1:p.Phe529HisfsTer10 | |
| ENST00000542601.6:c.1645_1652del | ENSP00000439156.2:p.Phe549HisfsTer10 | |
| NM_000095.2:c.1744_1751del | NP_000086.2:p.Phe582HisfsTer10 | |
| NM_000095.3:c.1744_1751del MANE Select | NP_000086.2:p.Phe582HisfsTer10 |