Linked Data
dbSNP Id:
rs2142086223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152636_80152644del , CM000677.2:g.80152636_80152644del | GRCh38 |
| NC_000015.9:g.80444978_80444986del , CM000677.1:g.80444978_80444986del | GRCh37 |
| NC_000015.8:g.78232033_78232041del | NCBI36 |
| NG_012833.1:g.4638_4646del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+91_-30+99del | ENSP00000453152.1:n.-30+91_-30+99del |