Linked Data
dbSNP Id:
rs1661092365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060529del , CM000663.2:g.94060529del | GRCh38 |
| NC_000001.10:g.94526085del , CM000663.1:g.94526085del | GRCh37 |
| NC_000001.9:g.94298673del | NCBI36 |
| NG_009073.1:g.65623del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2160+10del MANE Select | ENSP00000359245.3:n.2160+10del | |
| ENST00000649773.1:c.2160+10del | ENSP00000496882.1:n.2160+10del | |
| ENST00000370225.3:c.2160+10del | ENSP00000359245.3:n.2160+10del | |
| ENST00000472033.1:n.280+10del | ||
| ENST00000536513.5:c.-65+2647del | ENSP00000439707.2:n.-65+2647del | |
| NM_000350.2:c.2160+10del | NP_000341.2:n.2160+10del | |
| NM_000350.3:c.2160+10del MANE Select | NP_000341.2:n.2160+10del |