Linked Data
dbSNP Id:
rs2060587318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797812del , CM000678.2:g.8797812del | GRCh38 |
| NC_000016.9:g.8891669del , CM000678.1:g.8891669del | GRCh37 |
| NC_000016.8:g.8799170del | NCBI36 |
| NG_009209.1:g.5000del | |
| NG_033146.1:g.4838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.-71del | ENSP00000507849.1:n.-71del | |
| ENST00000683435.1:c.-71del | ENSP00000508092.1:n.-71del | |
| ENST00000566983.5:c.-15-3987del | ENSP00000457956.1:n.-15-3987del |