Linked Data
ClinVar Variation Id:
1158453
ClinVar RCV Id:
RCV001501899
dbSNP Id:
rs1568658026
gnomAD v2:
19-50364631-GGT-G
gnomAD v4:
19-49861374-GGT-G
MyVariant Identifiers:
chr19:g.50364632_50364633del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861376_49861377del , CM000681.2:g.49861376_49861377del | GRCh38 |
| NC_000019.9:g.50364633_50364634del , CM000681.1:g.50364633_50364634del | GRCh37 |
| NC_000019.8:g.55056445_55056446del | NCBI36 |
| NG_027717.1:g.11190_11191del | |
| NG_050666.1:g.17533_17534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1449-11_1449-10del MANE Select | ENSP00000323511.2:n.1449-11_1449-10del | |
| ENST00000636840.1:c.59+232_59+233del | ||
| ENST00000640501.1:c.55-15_55-14del | ||
| ENST00000322344.7:c.1449-11_1449-10del | ENSP00000323511.2:n.1449-11_1449-10del | |
| ENST00000593946.5:c.*1376-11_*1376-10del | ENSP00000468896.1:n.*1376-11_*1376-10del | |
| ENST00000594661.5:n.1950-11_1950-10del | ||
| ENST00000595081.5:n.352-11_352-10del | ||
| ENST00000596014.5:c.1449-11_1449-10del | ENSP00000472300.1:n.1449-11_1449-10del | |
| ENST00000597965.2:c.228_229del | ENSP00000471097.2:n.228_229del | |
| ENST00000599454.5:n.369-11_369-10del | ||
| ENST00000600573.5:c.1356-11_1356-10del | ENSP00000469826.1:n.1356-11_1356-10del | |
| ENST00000600910.5:c.1339-11_1339-10del | ENSP00000473137.1:n.1339-11_1339-10del | |
| ENST00000601816.3:n.521-11_521-10del | ||
| ENST00000625216.2:c.530-11_530-10del | ENSP00000486898.1:n.530-11_530-10del | |
| ENST00000627232.2:c.1369-11_1369-10del | ENSP00000486037.1:n.1369-11_1369-10del | |
| ENST00000631020.2:c.1341-11_1341-10del | ENSP00000486707.1:n.1341-11_1341-10del | |
| NM_007254.3:c.1449-11_1449-10del | NP_009185.2:n.1449-11_1449-10del | |
| NM_007254.4:c.1449-11_1449-10del MANE Select | NP_009185.2:n.1449-11_1449-10del |