Linked Data
dbSNP Id:
rs2123462619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984367_45984368del , CM000683.2:g.45984367_45984368del | GRCh38 |
| NC_000021.8:g.47404281_47404282del , CM000683.1:g.47404281_47404282del | GRCh37 |
| NC_000021.7:g.46228709_46228710del | NCBI36 |
| NG_008674.1:g.7619_7620del , LRG_475:g.7619_7620del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.326_327del MANE Select | ENSP00000355180.3:p.Gly109AlafsTer? | |
| ENST00000361866.7:c.326_327del | ENSP00000355180.3:p.Gly109AlafsTer? | |
| ENST00000612273.1:c.326_327del | ENSP00000483630.1:p.Gly109AlafsTer? | |
| NM_001848.2:c.326_327del , LRG_475t1:c.326_327del | NP_001839.2:p.Gly109AlafsTer? | |
| NM_001848.3:c.326_327del MANE Select | NP_001839.2:p.Gly109AlafsTer? |