Linked Data
ClinVar Variation Id:
420393
ClinVar RCV Id:
RCV000485935
dbSNP Id:
rs1064794452
gnomAD v3:
19-49861838-GTC-G
gnomAD v4:
19-49861838-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861841_49861842del , CM000681.2:g.49861841_49861842del | GRCh38 |
| NC_000019.9:g.50365098_50365099del , CM000681.1:g.50365098_50365099del | GRCh37 |
| NC_000019.8:g.55056910_55056911del | NCBI36 |
| NG_027717.1:g.10726_10727del | |
| NG_050666.1:g.17998_17999del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1230_1231del MANE Select | ENSP00000323511.2:p.Glu410AspfsTer? | |
| ENST00000322344.7:c.1230_1231del | ENSP00000323511.2:p.Glu410AspfsTer? | |
| ENST00000593706.3:n.826_827del | ||
| ENST00000593946.5:c.*1157_*1158del | ENSP00000468896.1:n.*1157_*1158del | |
| ENST00000594661.5:n.1731_1732del | ||
| ENST00000595081.5:n.57_58del | ||
| ENST00000596014.5:c.1230_1231del | ENSP00000472300.1:p.Glu410AspfsTer? | |
| ENST00000599454.5:n.74_75del | ||
| ENST00000600573.5:c.1137_1138del | ENSP00000469826.1:p.Glu379AspfsTer? | |
| ENST00000600910.5:c.1189-145_1189-144del | ENSP00000473137.1:n.1189-145_1189-144del | |
| ENST00000601816.3:n.129_130del | ||
| ENST00000625216.2:c.311_312del | ENSP00000486898.1:n.311_312del | |
| ENST00000627232.2:c.1150_1151del | ENSP00000486037.1:n.1150_1151del | |
| ENST00000631020.2:c.1122_1123del | ENSP00000486707.1:p.Glu374AspfsTer? | |
| NM_007254.3:c.1230_1231del | NP_009185.2:p.Glu410AspfsTer? | |
| NM_007254.4:c.1230_1231del MANE Select | NP_009185.2:p.Glu410AspfsTer? |