Linked Data
dbSNP Id:
rs2106220759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541551del , CM000664.2:g.232541551del | GRCh38 |
| NC_000002.11:g.233406261del , CM000664.1:g.233406261del | GRCh37 |
| NC_000002.10:g.233114505del | NCBI36 |
| NG_012954.1:g.6825del | |
| NG_012954.2:g.6860del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.506+22del MANE Select | ENSP00000498757.1:n.506+22del | |
| ENST00000389492.3:c.350+840del | ENSP00000374143.3:n.350+840del | |
| ENST00000389494.7:c.506+22del | ENSP00000374145.3:n.506+22del | |
| ENST00000485094.1:n.549del | ||
| NM_005199.4:c.506+22del | NP_005190.4:n.506+22del | |
| NM_005199.5:c.506+22del MANE Select | NP_005190.4:n.506+22del |