Linked Data
dbSNP Id:
rs1803052086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98391792_98391793del , CM000669.2:g.98391792_98391793del | GRCh38 |
| NC_000007.13:g.98021104_98021105del , CM000669.1:g.98021104_98021105del | GRCh37 |
| NC_000007.12:g.97859040_97859041del | NCBI36 |
| NG_013090.1:g.14324_14325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005260.9:c.51+9010_51+9011del MANE Select | ENSP00000005260.8:n.51+9010_51+9011del | |
| ENST00000005260.8:c.51+9010_51+9011del | ENSP00000005260.8:n.51+9010_51+9011del | |
| ENST00000462558.5:n.267+9010_267+9011del | ||
| ENST00000479789.1:n.357+8189_357+8190del | ||
| NM_018842.4:c.51+9010_51+9011del | NP_061330.2:n.51+9010_51+9011del | |
| NM_018842.5:c.51+9010_51+9011del MANE Select | NP_061330.2:n.51+9010_51+9011del |