Linked Data
ClinVar Variation Id:
423000
ClinVar RCV Id:
RCV000481215
dbSNP Id:
rs1064796154
gnomAD v4:
13-101061969-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101061972_101061973del , CM000675.2:g.101061972_101061973del | GRCh38 |
| NC_000013.10:g.101714324_101714325del , CM000675.1:g.101714324_101714325del | GRCh37 |
| NC_000013.9:g.100512325_100512326del | NCBI36 |
| NG_053176.1:g.360236_360237del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251127.11:c.4752_4753del MANE Select | ENSP00000251127.6:p.Arg1584SerfsTer2 | |
| ENST00000648359.1:c.*372_*373del | ENSP00000497465.1:n.*372_*373del | |
| ENST00000675150.1:c.4473_4474del | ENSP00000502680.1:p.Arg1491SerfsTer2 | |
| ENST00000675332.1:c.4839_4840del | ENSP00000501955.1:p.Arg1613SerfsTer2 | |
| ENST00000676315.1:c.4665_4666del | ENSP00000501603.1:p.Arg1555SerfsTer2 | |
| ENST00000251127.10:c.4752_4753del | ENSP00000251127.6:p.Arg1584SerfsTer2 | |
| NM_052867.2:c.4752_4753del | NP_443099.1:p.Arg1584SerfsTer2 | |
| XM_011521067.1:c.4809_4810del | XP_011519369.1:p.Arg1603SerfsTer2 | |
| XM_011521068.1:c.4752_4753del | XP_011519370.1:p.Arg1584SerfsTer2 | |
| XM_011521069.1:c.4722_4723del | XP_011519371.1:p.Arg1574SerfsTer2 | |
| XM_011521070.1:c.4530_4531del | XP_011519372.1:p.Arg1510SerfsTer2 | |
| NM_001350748.1:c.4839_4840del | NP_001337677.1:p.Arg1613SerfsTer2 | |
| NM_001350749.1:c.4752_4753del | NP_001337678.1:p.Arg1584SerfsTer2 | |
| NM_001350750.1:c.4665_4666del | NP_001337679.1:p.Arg1555SerfsTer2 | |
| NM_001350751.1:c.4665_4666del | NP_001337680.1:p.Arg1555SerfsTer2 | |
| NM_052867.3:c.4752_4753del | NP_443099.1:p.Arg1584SerfsTer2 | |
| XM_011521067.2:c.4809_4810del | XP_011519369.1:p.Arg1603SerfsTer2 | |
| XM_011521069.2:c.4722_4723del | XP_011519371.1:p.Arg1574SerfsTer2 | |
| XM_017020536.2:c.4305_4306del | XP_016876025.1:p.Arg1435SerfsTer2 | |
| XM_017020537.1:c.3987_3988del | XP_016876026.1:p.Arg1329SerfsTer2 | |
| XM_024449336.1:c.4896_4897del | XP_024305104.1:p.Arg1632SerfsTer2 | |
| NM_052867.4:c.4752_4753del MANE Select | NP_443099.1:p.Arg1584SerfsTer2 | |
| NM_001350748.2:c.4839_4840del | NP_001337677.1:p.Arg1613SerfsTer2 | |
| NM_001350749.2:c.4752_4753del | NP_001337678.1:p.Arg1584SerfsTer2 | |
| NM_001350750.2:c.4665_4666del | NP_001337679.1:p.Arg1555SerfsTer2 | |
| NM_001350751.2:c.4665_4666del | NP_001337680.1:p.Arg1555SerfsTer2 |