Linked Data
dbSNP Id:
rs2148395518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736273_153736277del , CM000685.2:g.153736273_153736277del | GRCh38 |
| NC_000023.10:g.153001727_153001731del , CM000685.1:g.153001727_153001731del | GRCh37 |
| NC_000023.9:g.152654921_152654925del | NCBI36 |
| NG_009022.2:g.16406_16410del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1224+19_1224+23del MANE Select | ENSP00000218104.3:n.1224+19_1224+23del | |
| ENST00000218104.5:c.1224+19_1224+23del | ENSP00000218104.3:n.1224+19_1224+23del | |
| ENST00000443684.2:n.227+19_227+23del | ||
| NM_000033.3:c.1224+19_1224+23del | NP_000024.2:n.1224+19_1224+23del | |
| XR_938507.1:n.1640+19_1640+23del | ||
| XR_938507.2:n.1640+19_1640+23del | ||
| NM_000033.4:c.1224+19_1224+23del MANE Select | NP_000024.2:n.1224+19_1224+23del |