Linked Data
dbSNP Id:
rs879130837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781858_94781859delinsA , CM000672.2:g.94781858_94781859delinsA | GRCh38 |
| NC_000010.10:g.96541615_96541616delinsA , CM000672.1:g.96541615_96541616delinsA | GRCh37 |
| NC_000010.9:g.96531605_96531606delinsA | NCBI36 |
| NG_008384.2:g.24153_24154delinsA | |
| NG_008384.3:g.24178_24179delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.680_681delinsA MANE Select | ENSP00000360372.3:p.Pro227GlnfsTer22 | |
| ENST00000645461.1:n.1733_1734delinsA | ||
| ENST00000371321.7:c.680_681delinsA | ENSP00000360372.3:p.Pro227GlnfsTer22 | |
| ENST00000464755.1:c.1443_1444delinsA | ENSP00000483243.1:n.1443_1444delinsA | |
| NM_000769.2:c.680_681delinsA | NP_000760.1:p.Pro227GlnfsTer22 | |
| NM_000769.4:c.680_681delinsA MANE Select | NP_000760.1:p.Pro227GlnfsTer22 |