Linked Data
dbSNP Id:
rs1808793459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8864727_8864731del , CM000670.2:g.8864727_8864731del | GRCh38 |
| NC_000008.10:g.8722237_8722241del , CM000670.1:g.8722237_8722241del | GRCh37 |
| NC_000008.9:g.8759647_8759651del | NCBI36 |
| NG_009444.1:g.33891_33895del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276282.7:c.2998+25330_2998+25334del MANE Select | ENSP00000276282.6:n.2998+25330_2998+25334del | |
| ENST00000276282.6:c.2998+25330_2998+25334del | ENSP00000276282.6:n.2998+25330_2998+25334del | |
| NM_004225.2:c.2998+25330_2998+25334del | NP_004216.2:n.2998+25330_2998+25334del | |
| XR_246634.2:n.3534+25330_3534+25334del | ||
| XM_024447330.1:c.2998+25330_2998+25334del | XP_024303098.1:n.2998+25330_2998+25334del | |
| NM_004225.3:c.2998+25330_2998+25334del MANE Select | NP_004216.2:n.2998+25330_2998+25334del |