Linked Data
dbSNP Id:
rs1878978211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055586del , CM000674.2:g.91055586del | GRCh38 |
| NC_000012.11:g.91449363del , CM000674.1:g.91449363del | GRCh37 |
| NC_000012.10:g.89973494del | NCBI36 |
| NG_021223.1:g.7772del , LRG_538:g.7772del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.699del MANE Select | ENSP00000266719.3:p.Phe233LeufsTer3 | |
| ENST00000266719.3:c.699del | ENSP00000266719.3:p.Phe233LeufsTer3 | |
| NM_007035.3:c.699del , LRG_538t1:c.699del | NP_008966.1:p.Phe233LeufsTer3 | |
| XM_011537781.1:c.699del | XP_011536083.1:p.Phe233LeufsTer3 | |
| NM_007035.4:c.699del MANE Select | NP_008966.1:p.Phe233LeufsTer3 |