Linked Data
ClinVar Variation Id:
2730369
ClinVar RCV Id:
RCV003579679
dbSNP Id:
rs587779743
gnomAD v3:
6-156778268-CCAGCAGCAGCAGCAGCAGCAG-C
gnomAD v4:
6-156778268-CCAGCAGCAGCAGCAGCAGCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156778271_156778291del , CM000668.2:g.156778271_156778291del | GRCh38 |
| NC_000006.11:g.157099405_157099425del , CM000668.1:g.157099405_157099425del | GRCh37 |
| NC_000006.10:g.157141097_157141117del | NCBI36 |
| NG_032093.1:g.5342_5362del | |
| NG_032093.2:g.5342_5362del | |
| NG_066624.1:g.7246_7266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.591_611del | ENSP00000055163.8:p.Gln198_Gln204del | |
| ENST00000414678.8:c.591_611del | ENSP00000412835.3:p.Gln198_Gln204del | |
| ENST00000637015.2:c.591_611del | ENSP00000489729.2:p.Gln198_Gln204del | |
| ENST00000346085.10:c.591_611del | ENSP00000344546.5:p.Gln198_Gln204del | |
| ENST00000350026.10:c.342_362del | ENSP00000055163.7:p.Gln115_Gln121del | |
| ENST00000636930.2:c.591_611del MANE Select | ENSP00000490491.2:p.Gln198_Gln204del | |
| ENST00000647938.1:c.342_362del | ENSP00000498155.1:p.Gln115_Gln121del | |
| ENST00000674298.1:c.331_351del | ||
| ENST00000346085.9:c.342_362del | ENSP00000344546.4:p.Gln115_Gln121del | |
| ENST00000350026.9:c.342_362del | ENSP00000055163.7:p.Gln115_Gln121del | |
| NM_017519.2:c.342_362del | NP_059989.2:p.Gln115_Gln121del | |
| NM_020732.3:c.342_362del | NP_065783.3:p.Gln115_Gln121del | |
| XM_005267069.3:c.342_362del | XP_005267126.2:p.Gln115_Gln121del | |
| XR_943148.1:n.134_154del | ||
| NM_001346813.1:c.342_362del | NP_001333742.1:p.Gln115_Gln121del | |
| XM_011535984.2:c.342_362del | XP_011534286.2:p.Gln115_Gln121del | |
| XM_017011103.2:c.342_362del | XP_016866592.1:p.Gln115_Gln121del | |
| XM_017011104.1:c.342_362del | XP_016866593.1:p.Gln115_Gln121del | |
| XM_017011105.2:c.342_362del | XP_016866594.1:p.Gln115_Gln121del | |
| XM_017011106.2:c.342_362del | XP_016866595.1:p.Gln115_Gln121del | |
| XM_017011107.2:c.342_362del | XP_016866596.1:p.Gln115_Gln121del | |
| XR_002956289.1:n.425_445del | ||
| NM_001371656.1:c.591_611del | NP_001358585.1:p.Gln198_Gln204del | |
| NM_001374820.1:c.591_611del | NP_001361749.1:p.Gln198_Gln204del | |
| NM_001374828.1:c.591_611del MANE Select | NP_001361757.1:p.Gln198_Gln204del | |
| NM_017519.3:c.591_611del | NP_059989.3:p.Gln198_Gln204del | |
| NR_163974.1:n.230_250del |