Linked Data
dbSNP Id:
rs1659892698
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728312_215728314del , CM000663.2:g.215728312_215728314del | GRCh38 |
| NC_000001.10:g.215901654_215901656del , CM000663.1:g.215901654_215901656del | GRCh37 |
| NC_000001.9:g.213968277_213968279del | NCBI36 |
| NG_009497.1:g.700084_700086del | |
| NG_009497.2:g.700136_700138del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11783_11785del MANE Select | ENSP00000305941.3:p.Glu3928del | |
| ENST00000674083.1:c.11783_11785del | ENSP00000501296.1:p.Glu3928del | |
| ENST00000307340.7:c.11783_11785del | ENSP00000305941.3:p.Glu3928del | |
| NM_206933.2:c.11783_11785del | NP_996816.2:p.Glu3928del | |
| NM_206933.3:c.11783_11785del | NP_996816.2:p.Glu3928del | |
| NM_206933.4:c.11783_11785del MANE Select | NP_996816.3:p.Glu3928del |