Linked Data
ClinVar Variation Id:
164140
dbSNP Id:
rs727503212
gnomAD v2:
11-47369219-TC-T
gnomAD v3:
11-47347668-TC-T
gnomAD v4:
11-47347668-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47347670del , CM000673.2:g.47347670del | GRCh38 |
| NC_000011.9:g.47369221del , CM000673.1:g.47369221del | GRCh37 |
| NC_000011.8:g.47325797del | NCBI36 |
| NG_007667.1:g.10034del , LRG_386:g.10034del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.833del MANE Select | ENSP00000442795.1:p.Gly278GlufsTer22 | |
| ENST00000256993.8:c.833del | ENSP00000256993.5:p.Gly278GlufsTer22 | |
| ENST00000399249.6:c.833del | ENSP00000382193.2:p.Gly278GlufsTer22 | |
| ENST00000544791.1:c.833del | ENSP00000444259.1:p.Gly278GlufsTer22 | |
| ENST00000545968.5:c.833del | ENSP00000442795.1:p.Gly278GlufsTer22 | |
| NM_000256.3:c.833del , LRG_386t1:c.833del MANE Select | NP_000247.2:p.Gly278GlufsTer22 | |
| XM_011520117.1:c.833del | XP_011518419.1:p.Gly278GlufsTer22 | |
| XM_011520118.1:c.833del | XP_011518420.1:p.Gly278GlufsTer22 |