Linked Data
dbSNP Id:
rs2133796944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625084_22625085del , CM000673.2:g.22625084_22625085del | GRCh38 |
| NC_000011.9:g.22646630_22646631del , CM000673.1:g.22646630_22646631del | GRCh37 |
| NC_000011.8:g.22603206_22603207del | NCBI36 |
| NG_007425.1:g.5759_5760del , LRG_527:g.5759_5760del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.728_729del MANE Select | ENSP00000330875.3:p.Gly243GlufsTer22 | |
| ENST00000327470.4:c.728_729del | ENSP00000330875.3:p.Gly243GlufsTer22 | |
| NM_022725.3:c.728_729del , LRG_527t1:c.728_729del | NP_073562.1:p.Gly243GlufsTer22 | |
| NM_022725.4:c.728_729del MANE Select | NP_073562.1:p.Gly243GlufsTer22 |