Linked Data
dbSNP Id:
rs34153784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962844del , CM000670.2:g.19962844del | GRCh38 |
| NC_000008.10:g.19820355del , CM000670.1:g.19820355del | GRCh37 |
| NC_000008.9:g.19864635del | NCBI36 |
| NG_008855.1:g.28774del | |
| NG_008855.2:g.66128del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1427+625del MANE Select | ENSP00000497642.1:n.1427+625del | |
| ENST00000650478.1:c.367+625del | ENSP00000497560.1:n.367+625del | |
| ENST00000311322.8:c.1427+625del | ENSP00000309757.6:n.1427+625del | |
| NM_000237.2:c.1427+625del | NP_000228.1:n.1427+625del | |
| NM_000237.3:c.1427+625del MANE Select | NP_000228.1:n.1427+625del |