Linked Data
ClinVar Variation Id:
56183
dbSNP Id:
rs386833635
gnomAD v3:
1-40092456-TC-T
gnomAD v4:
1-40092456-TC-T
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092458del , CM000663.2:g.40092458del | GRCh38 |
| NC_000001.10:g.40558130del , CM000663.1:g.40558130del | GRCh37 |
| NC_000001.9:g.40330717del | NCBI36 |
| NG_009192.1:g.10014del , LRG_690:g.10014del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.*11del | ENSP00000361865.5:n.*11del | |
| ENST00000433473.8:c.172del | ENSP00000394863.4:p.Glu58ArgfsTer12 | |
| ENST00000439754.6:c.175del | ENSP00000403207.2:p.Glu59ArgfsTer12 | |
| ENST00000449045.7:c.125-2945del | ENSP00000392293.2:n.125-2945del | |
| ENST00000526547.2:c.455del | ||
| ENST00000527311.7:c.175del | ENSP00000436695.3:p.Glu59ArgfsTer12 | |
| ENST00000530704.6:c.175del | ENSP00000431655.1:p.Glu59ArgfsTer12 | |
| ENST00000641083.1:c.153del | ||
| ENST00000641236.1:n.187del | ||
| ENST00000641319.1:c.175del | ENSP00000493128.1:p.Glu59ArgfsTer12 | |
| ENST00000641471.1:c.262del | ENSP00000493146.1:p.Glu88ArgfsTer12 | |
| ENST00000641548.1:c.*27del | ENSP00000492984.1:n.*27del | |
| ENST00000641691.1:c.*27del | ENSP00000492910.1:n.*27del | |
| ENST00000641924.1:c.124+4658del | ENSP00000493063.1:n.124+4658del | |
| ENST00000642050.2:c.175del MANE Select | ENSP00000493153.1:p.Glu59ArgfsTer12 | |
| ENST00000372779.8:c.262del | ENSP00000361865.4:p.Glu88ArgfsTer12 | |
| ENST00000433473.7:c.175del | ENSP00000394863.3:p.Glu59ArgfsTer12 | |
| ENST00000449045.6:c.125-2945del | ENSP00000392293.2:n.125-2945del | |
| ENST00000526547.1:c.25del | ENSP00000436481.1:p.Glu9ArgfsTer12 | |
| ENST00000527311.6:c.125-400del | ENSP00000436695.2:n.125-400del | |
| ENST00000529905.5:c.175del | ENSP00000432053.1:p.Glu59ArgfsTer12 | |
| ENST00000530704.5:c.175del | ENSP00000431655.1:p.Glu59ArgfsTer12 | |
| NM_000310.3:c.175del , LRG_690t1:c.175del | NP_000301.1:p.Glu59ArgfsTer12 | |
| NM_001142604.1:c.125-2945del | NP_001136076.1:n.125-2945del | |
| XM_005271008.1:c.175del | XP_005271065.1:p.Glu59ArgfsTer12 | |
| NM_001363695.1:c.175del | NP_001350624.1:p.Glu59ArgfsTer12 | |
| NM_000310.4:c.175del MANE Select | NP_000301.1:p.Glu59ArgfsTer12 | |
| NM_001142604.2:c.125-2945del | NP_001136076.1:n.125-2945del | |
| NM_001363695.2:c.175del | NP_001350624.1:p.Glu59ArgfsTer12 |