Linked Data
ClinVar Variation Id:
56192
dbSNP Id:
rs386833644
ExAC:
1:40557035 CA / C
gnomAD v2:
1-40557035-CA-C
gnomAD v4:
1-40091363-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091364del , CM000663.2:g.40091364del | GRCh38 |
| NC_000001.10:g.40557036del , CM000663.1:g.40557036del | GRCh37 |
| NC_000001.9:g.40329623del | NCBI36 |
| NG_009192.1:g.11107del , LRG_690:g.11107del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.*234del | ENSP00000361865.5:n.*234del | |
| ENST00000433473.8:c.395del | ENSP00000394863.4:p.Met132ArgfsTer4 | |
| ENST00000439754.6:c.398del | ENSP00000403207.2:p.Met133ArgfsTer4 | |
| ENST00000449045.7:c.125-1852del | ENSP00000392293.2:n.125-1852del | |
| ENST00000526547.2:c.678del | ||
| ENST00000527311.7:c.270del | ENSP00000436695.3:p.His90GlnfsTer24 | |
| ENST00000530704.6:c.398del | ENSP00000431655.1:p.Met133ArgfsTer4 | |
| ENST00000641083.1:c.376del | ||
| ENST00000641236.1:n.635del | ||
| ENST00000641319.1:c.398del | ENSP00000493128.1:p.Met133ArgfsTer4 | |
| ENST00000641381.1:c.10del | ||
| ENST00000641471.1:c.485del | ENSP00000493146.1:p.Met162ArgfsTer4 | |
| ENST00000641548.1:c.*250del | ENSP00000492984.1:n.*250del | |
| ENST00000641691.1:c.*250del | ENSP00000492910.1:n.*250del | |
| ENST00000641924.1:c.124+5751del | ENSP00000493063.1:n.124+5751del | |
| ENST00000642050.2:c.398del MANE Select | ENSP00000493153.1:p.Met133ArgfsTer4 | |
| ENST00000372779.8:c.485del | ENSP00000361865.4:p.Met162ArgfsTer4 | |
| ENST00000433473.7:c.398del | ENSP00000394863.3:p.Met133ArgfsTer4 | |
| ENST00000439754.5:c.83del | ENSP00000403207.1:p.Met28ArgfsTer4 | |
| ENST00000449045.6:c.125-1852del | ENSP00000392293.2:n.125-1852del | |
| ENST00000526547.1:c.248del | ENSP00000436481.1:p.Met83ArgfsTer4 | |
| ENST00000527311.6:c.173del | ENSP00000436695.2:p.Met58ArgfsTer4 | |
| ENST00000529905.5:c.398del | ENSP00000432053.1:p.Met133ArgfsTer4 | |
| ENST00000530704.5:c.398del | ENSP00000431655.1:p.Met133ArgfsTer4 | |
| NM_000310.3:c.398del , LRG_690t1:c.398del | NP_000301.1:p.Met133ArgfsTer4 | |
| NM_001142604.1:c.125-1852del | NP_001136076.1:n.125-1852del | |
| XM_005271008.1:c.398del | XP_005271065.1:p.Met133ArgfsTer4 | |
| NM_001363695.1:c.398del | NP_001350624.1:p.Met133ArgfsTer4 | |
| NM_000310.4:c.398del MANE Select | NP_000301.1:p.Met133ArgfsTer4 | |
| NM_001142604.2:c.125-1852del | NP_001136076.1:n.125-1852del | |
| NM_001363695.2:c.398del | NP_001350624.1:p.Met133ArgfsTer4 |