Linked Data
ClinVar Variation Id:
1558407
dbSNP Id:
rs765720389
ExAC:
19:50364822 CAG / C
gnomAD v2:
19-50364822-CAG-C
gnomAD v3:
19-49861565-CAG-C
gnomAD v4:
19-49861565-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861566_49861567del , CM000681.2:g.49861566_49861567del | GRCh38 |
| NC_000019.9:g.50364823_50364824del , CM000681.1:g.50364823_50364824del | GRCh37 |
| NC_000019.8:g.55056635_55056636del | NCBI36 |
| NG_027717.1:g.10999_11000del | |
| NG_050666.1:g.17723_17724del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1386+41_1386+42del MANE Select | ENSP00000323511.2:n.1386+41_1386+42del | |
| ENST00000636840.1:c.59+41_59+42del | ||
| ENST00000322344.7:c.1386+41_1386+42del | ENSP00000323511.2:n.1386+41_1386+42del | |
| ENST00000593946.5:c.*1313+41_*1313+42del | ENSP00000468896.1:n.*1313+41_*1313+42del | |
| ENST00000594661.5:n.1887+41_1887+42del | ||
| ENST00000595081.5:n.289+41_289+42del | ||
| ENST00000596014.5:c.1386+41_1386+42del | ENSP00000472300.1:n.1386+41_1386+42del | |
| ENST00000597965.2:c.93+41_93+42del | ENSP00000471097.2:n.93+41_93+42del | |
| ENST00000599454.5:n.306+41_306+42del | ||
| ENST00000600573.5:c.1293+41_1293+42del | ENSP00000469826.1:n.1293+41_1293+42del | |
| ENST00000600910.5:c.1276+41_1276+42del | ENSP00000473137.1:n.1276+41_1276+42del | |
| ENST00000601816.3:n.402_403del | ||
| ENST00000625216.2:c.467+41_467+42del | ENSP00000486898.1:n.467+41_467+42del | |
| ENST00000627232.2:c.1306+41_1306+42del | ENSP00000486037.1:n.1306+41_1306+42del | |
| ENST00000631020.2:c.1278+41_1278+42del | ENSP00000486707.1:n.1278+41_1278+42del | |
| NM_007254.3:c.1386+41_1386+42del | NP_009185.2:n.1386+41_1386+42del | |
| NM_007254.4:c.1386+41_1386+42del MANE Select | NP_009185.2:n.1386+41_1386+42del |