Linked Data
dbSNP Id:
rs1554398000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423075del , CM000669.2:g.94423075del | GRCh38 |
| NC_000007.13:g.94052387del , CM000669.1:g.94052387del | GRCh37 |
| NC_000007.12:g.93890323del | NCBI36 |
| NG_007405.1:g.33515del , LRG_2:g.33515del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2522del MANE Select | ENSP00000297268.6:p.Gly841AlafsTer? | |
| ENST00000297268.10:c.2522del | ENSP00000297268.6:p.Gly841AlafsTer? | |
| ENST00000481570.5:n.605del | ||
| ENST00000497316.5:n.919del | ||
| ENST00000620463.1:c.2516del | ENSP00000477719.1:p.Gly839AlafsTer? | |
| NM_000089.3:c.2522del , LRG_2t1:c.2522del | NP_000080.2:p.Gly841AlafsTer? | |
| NM_000089.4:c.2522del MANE Select | NP_000080.2:p.Gly841AlafsTer? |