Linked Data
dbSNP Id:
rs879130837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781858_94781859delinsT , CM000672.2:g.94781858_94781859delinsT | GRCh38 |
| NC_000010.10:g.96541615_96541616delinsT , CM000672.1:g.96541615_96541616delinsT | GRCh37 |
| NC_000010.9:g.96531605_96531606delinsT | NCBI36 |
| NG_008384.2:g.24153_24154delinsT | |
| NG_008384.3:g.24178_24179delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.680_681delinsT MANE Select | ENSP00000360372.3:p.Pro227LeufsTer22 | |
| ENST00000645461.1:n.1733_1734delinsT | ||
| ENST00000371321.7:c.680_681delinsT | ENSP00000360372.3:p.Pro227LeufsTer22 | |
| ENST00000464755.1:c.1443_1444delinsT | ENSP00000483243.1:n.1443_1444delinsT | |
| NM_000769.2:c.680_681delinsT | NP_000760.1:p.Pro227LeufsTer22 | |
| NM_000769.4:c.680_681delinsT MANE Select | NP_000760.1:p.Pro227LeufsTer22 |