Linked Data
dbSNP Id:
rs2092598785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927582_149927608del , CM000663.2:g.149927582_149927608del | GRCh38 |
| NC_000001.10:g.149899474_149899500del , CM000663.1:g.149899474_149899500del | GRCh37 |
| NC_000001.9:g.148166098_148166124del | NCBI36 |
| NG_032777.1:g.5646_5672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+119_34+145del MANE Select | ENSP00000271628.8:n.34+119_34+145del | |
| ENST00000271628.8:c.34+119_34+145del | ENSP00000271628.8:n.34+119_34+145del | |
| NM_005850.4:c.34+119_34+145del | NP_005841.1:n.34+119_34+145del | |
| NM_005850.5:c.34+119_34+145del MANE Select | NP_005841.1:n.34+119_34+145del |