Linked Data
dbSNP Id:
rs1880085514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107281_91107328del , CM000674.2:g.91107281_91107328del | GRCh38 |
| NC_000012.11:g.91501058_91501105del , CM000674.1:g.91501058_91501105del | GRCh37 |
| NC_000012.10:g.90025189_90025236del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266718.5:c.862+791_862+838del MANE Select | ENSP00000266718.4:n.862+791_862+838del | |
| ENST00000266718.4:c.862+791_862+838del | ENSP00000266718.4:n.862+791_862+838del | |
| ENST00000546642.1:n.612+791_612+838del | ||
| ENST00000548071.1:n.255+791_255+838del | ||
| NM_002345.3:c.862+791_862+838del | NP_002336.1:n.862+791_862+838del | |
| NM_002345.4:c.862+791_862+838del MANE Select | NP_002336.1:n.862+791_862+838del |