Linked Data
dbSNP Id:
rs1941262595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652040_52652042del , CM000674.2:g.52652040_52652042del | GRCh38 |
| NC_000012.11:g.53045824_53045826del , CM000674.1:g.53045824_53045826del | GRCh37 |
| NC_000012.10:g.51332091_51332093del | NCBI36 |
| NG_008296.1:g.5135_5137del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.102_104del MANE Select | ENSP00000310861.3:p.Arg35del | |
| ENST00000309680.3:c.102_104del | ENSP00000310861.3:p.Arg35del | |
| NM_000423.2:c.102_104del | NP_000414.2:p.Arg35del | |
| NM_000423.3:c.102_104del MANE Select | NP_000414.2:p.Arg35del |