Linked Data
dbSNP Id:
rs2075240977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17395790_17395791del , CM000663.2:g.17395790_17395791del | GRCh38 |
| NC_000001.10:g.17722286_17722287del , CM000663.1:g.17722286_17722287del | GRCh37 |
| NC_000001.9:g.17594873_17594874del | NCBI36 |
| NG_032943.1:g.28545_28546del | |
| NG_032943.2:g.28545_28546del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1618+127_1618+128del MANE Select | ENSP00000483125.1:n.1618+127_1618+128del | |
| NM_207421.4:c.1618+127_1618+128del MANE Select | NP_997304.3:n.1618+127_1618+128del |