Linked Data
dbSNP Id:
rs1379548548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530558_129530559insACCCACACACACA , CM000665.2:g.129530558_129530559insACCCACACACACA | GRCh38 |
| NC_000003.11:g.129249401_129249402insACCCACACACACA , CM000665.1:g.129249401_129249402insACCCACACACACA | GRCh37 |
| NC_000003.10:g.130732091_130732092insACCCACACACACA | NCBI36 |
| NG_009115.1:g.6920_6921insACCCACACACACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-318_362-317insACCCACACACACA MANE Select | ENSP00000296271.3:n.362-318_362-317insACCCACACACACA | |
| ENST00000296271.3:c.362-318_362-317insACCCACACACACA | ENSP00000296271.3:n.362-318_362-317insACCCACACACACA | |
| NM_000539.3:c.362-318_362-317insACCCACACACACA MANE Select | NP_000530.1:n.362-318_362-317insACCCACACACACA |