Linked Data
dbSNP Id:
rs758087762
ExAC:
19:50365031 GGC / G
gnomAD v3:
19-49861774-GGC-G
gnomAD v4:
19-49861774-GGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861778_49861779del , CM000681.2:g.49861778_49861779del | GRCh38 |
| NC_000019.9:g.50365035_50365036del , CM000681.1:g.50365035_50365036del | GRCh37 |
| NC_000019.8:g.55056847_55056848del | NCBI36 |
| NG_027717.1:g.10790_10791del | |
| NG_050666.1:g.17935_17936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1294_1295del MANE Select | ENSP00000323511.2:p.Ala432GlnfsTer? | |
| ENST00000322344.7:c.1294_1295del | ENSP00000323511.2:p.Ala432GlnfsTer? | |
| ENST00000593946.5:c.*1221_*1222del | ENSP00000468896.1:n.*1221_*1222del | |
| ENST00000594661.5:n.1795_1796del | ||
| ENST00000595081.5:n.121_122del | ||
| ENST00000596014.5:c.1294_1295del | ENSP00000472300.1:p.Ala432GlnfsTer? | |
| ENST00000599454.5:n.138_139del | ||
| ENST00000600573.5:c.1201_1202del | ENSP00000469826.1:p.Ala401GlnfsTer? | |
| ENST00000600910.5:c.1189-81_1189-80del | ENSP00000473137.1:n.1189-81_1189-80del | |
| ENST00000601816.3:n.193_194del | ||
| ENST00000625216.2:c.375_376del | ENSP00000486898.1:n.375_376del | |
| ENST00000627232.2:c.1214_1215del | ENSP00000486037.1:n.1214_1215del | |
| ENST00000631020.2:c.1186_1187del | ENSP00000486707.1:p.Ala396GlnfsTer? | |
| NM_007254.3:c.1294_1295del | NP_009185.2:p.Ala432GlnfsTer? | |
| NM_007254.4:c.1294_1295del MANE Select | NP_009185.2:p.Ala432GlnfsTer? |