Linked Data
dbSNP Id:
rs2142086040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152547_80152549del , CM000677.2:g.80152547_80152549del | GRCh38 |
| NC_000015.9:g.80444889_80444891del , CM000677.1:g.80444889_80444891del | GRCh37 |
| NC_000015.8:g.78231944_78231946del | NCBI36 |
| NG_012833.1:g.4549_4551del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+2_-30+4del | ENSP00000453152.1:n.-30+2_-30+4del |