Linked Data
dbSNP Id:
rs1566108695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045796_48045797del , CM000675.2:g.48045796_48045797del | GRCh38 |
| NC_000013.10:g.48619932_48619933del , CM000675.1:g.48619932_48619933del | GRCh37 |
| NC_000013.9:g.47517933_47517934del | NCBI36 |
| NG_047021.1:g.13230_13231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.492_493del MANE Select | ENSP00000258662.1:p.Ter165GlyextTer18 | |
| ENST00000258662.2:c.492_493del | ENSP00000258662.1:p.Ter165GlyextTer18 | |
| NM_018283.2:c.492_493del | NP_060753.1:p.Ter165GlyextTer18 | |
| NM_018283.3:c.492_493del | NP_060753.1:p.Ter165GlyextTer18 | |
| NR_136687.1:n.672_673del | ||
| NR_136688.1:n.672_673del | ||
| NM_018283.4:c.492_493del MANE Select | NP_060753.1:p.Ter165GlyextTer18 | |
| NR_136687.2:n.513_514del | ||
| NR_136688.2:n.513_514del |