Linked Data
dbSNP Id:
rs770671657
ExAC:
1:153963623 AGAG / A
gnomAD v2:
1-153963623-AGAG-A
gnomAD v3:
1-153991147-AGAG-A
gnomAD v4:
1-153991147-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991151_153991153del , CM000663.2:g.153991151_153991153del | GRCh38 |
| NC_000001.10:g.153963627_153963629del , CM000663.1:g.153963627_153963629del | GRCh37 |
| NC_000001.9:g.152230251_152230253del | NCBI36 |
| NG_053102.2:g.5397_5399del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.231_233del | ||
| ENST00000643794.1:c.164_166del | ENSP00000495765.1:p.Gly55del | |
| ENST00000651669.1:c.43_45del MANE Select | ENSP00000499044.1:p.Glu15del | |
| ENST00000368567.4:c.43_45del | ENSP00000357555.4:p.Glu15del | |
| ENST00000392558.4:c.43_45del | ENSP00000376341.4:p.Glu15del | |
| ENST00000477151.1:n.198_200del | ||
| ENST00000493224.5:n.309_311del | ||
| NM_001030.4:c.43_45del | NP_001021.1:p.Glu15del | |
| NM_001030.6:c.43_45del MANE Select | NP_001021.1:p.Glu15del | |
| NM_001349946.1:c.-54_-52del | NP_001336875.1:n.-54_-52del | |
| NM_001349947.1:c.-54_-52del | NP_001336876.1:n.-54_-52del | |
| NM_001349946.2:c.-54_-52del | NP_001336875.1:n.-54_-52del | |
| NM_001349947.2:c.-54_-52del | NP_001336876.1:n.-54_-52del |