Linked Data
dbSNP Id:
rs2040121744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060777del , CM000681.2:g.49060777del | GRCh38 |
| NC_000019.9:g.49564034del , CM000681.1:g.49564034del | GRCh37 |
| NC_000019.8:g.54255846del | NCBI36 |
| NG_016289.1:g.8091del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599795.5:c.243+978del | ENSP00000470689.1:n.243+978del | |
| XM_011527575.1:c.-25del | XP_011525877.1:n.-25del | |
| XR_001753693.1:n.879+387del | ||
| XR_001753694.1:n.912del |