Linked Data
dbSNP Id:
rs766972931
ExAC:
19:50364744 AGAG / A
gnomAD v2:
19-50364744-AGAG-A
gnomAD v4:
19-49861487-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861491_49861493del , CM000681.2:g.49861491_49861493del | GRCh38 |
| NC_000019.9:g.50364748_50364750del , CM000681.1:g.50364748_50364750del | GRCh37 |
| NC_000019.8:g.55056560_55056562del | NCBI36 |
| NG_027717.1:g.11076_11078del | |
| NG_050666.1:g.17648_17650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1407_1409del MANE Select | ENSP00000323511.2:p.Ser470del | |
| ENST00000636840.1:c.59+118_59+120del | ||
| ENST00000640501.1:c.13_15del | ||
| ENST00000322344.7:c.1407_1409del | ENSP00000323511.2:p.Ser470del | |
| ENST00000593946.5:c.*1334_*1336del | ENSP00000468896.1:n.*1334_*1336del | |
| ENST00000594661.5:n.1908_1910del | ||
| ENST00000595081.5:n.310_312del | ||
| ENST00000596014.5:c.1407_1409del | ENSP00000472300.1:p.Ser470del | |
| ENST00000597965.2:c.114_116del | ENSP00000471097.2:p.Ser39del | |
| ENST00000599454.5:n.327_329del | ||
| ENST00000600573.5:c.1314_1316del | ENSP00000469826.1:p.Ser439del | |
| ENST00000600910.5:c.1297_1299del | ENSP00000473137.1:p.Leu433del | |
| ENST00000601816.3:n.479_481del | ||
| ENST00000625216.2:c.488_490del | ENSP00000486898.1:n.488_490del | |
| ENST00000627232.2:c.1327_1329del | ENSP00000486037.1:n.1327_1329del | |
| ENST00000631020.2:c.1299_1301del | ENSP00000486707.1:p.Ser434del | |
| NM_007254.3:c.1407_1409del | NP_009185.2:p.Ser470del | |
| NM_007254.4:c.1407_1409del MANE Select | NP_009185.2:p.Ser470del |