Linked Data
dbSNP Id:
rs2048694968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25009970_25009978del , CM000685.2:g.25009970_25009978del | GRCh38 |
| NC_000023.10:g.25028087_25028095del , CM000685.1:g.25028087_25028095del | GRCh37 |
| NC_000023.9:g.24938008_24938016del | NCBI36 |
| NG_008281.1:g.10974_10982del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1119+285_1119+293del MANE Select | ENSP00000368332.4:n.1119+285_1119+293del | |
| ENST00000379044.4:c.1119+285_1119+293del | ENSP00000368332.4:n.1119+285_1119+293del | |
| NM_139058.2:c.1119+285_1119+293del | NP_620689.1:n.1119+285_1119+293del | |
| NM_139058.3:c.1119+285_1119+293del MANE Select | NP_620689.1:n.1119+285_1119+293del |