Linked Data
dbSNP Id:
rs1057518794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004782_25004785del , CM000685.2:g.25004782_25004785del | GRCh38 |
| NC_000023.10:g.25022899_25022902del , CM000685.1:g.25022899_25022902del | GRCh37 |
| NC_000023.9:g.24932820_24932823del | NCBI36 |
| NG_008281.1:g.16169_16172del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1579_1582del MANE Select | ENSP00000368332.4:p.Arg527AlafsTer5 | |
| ENST00000379044.4:c.1579_1582del | ENSP00000368332.4:p.Arg527AlafsTer5 | |
| NM_139058.2:c.1579_1582del | NP_620689.1:p.Arg527AlafsTer5 | |
| NM_139058.3:c.1579_1582del MANE Select | NP_620689.1:p.Arg527AlafsTer5 |