Linked Data
ClinVar Variation Id:
652858
ClinVar RCV Id:
RCV000808513
dbSNP Id:
rs755032702
ExAC:
22:30077554 CAG / C
gnomAD v2:
22-30077554-CAG-C
gnomAD v3:
22-29681565-CAG-C
gnomAD v4:
22-29681565-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29681566_29681567del , CM000684.2:g.29681566_29681567del | GRCh38 |
| NC_000022.10:g.30077555_30077556del , CM000684.1:g.30077555_30077556del | GRCh37 |
| NC_000022.9:g.28407555_28407556del | NCBI36 |
| NG_009057.1:g.83011_83012del , LRG_511:g.83011_83012del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.1567_1568del | ENSP00000354529.6:p.Arg523GlyfsTer10 | |
| ENST00000673312.2:c.*1196_*1197del | ENSP00000500186.2:n.*1196_*1197del | |
| ENST00000338641.10:c.1702_1703del MANE Select | ENSP00000344666.5:p.Arg568GlyfsTer10 | |
| ENST00000361166.9:c.1120_1121del | ENSP00000354529.5:p.Arg374GlyfsTer10 | |
| ENST00000672461.1:c.1702_1703del | ENSP00000500919.1:p.Arg568GlyfsTer10 | |
| ENST00000672805.1:c.*1584_*1585del | ENSP00000500295.1:n.*1584_*1585del | |
| ENST00000672896.1:c.1702_1703del | ENSP00000500117.1:p.Arg568GlyfsTer10 | |
| ENST00000673312.1:c.1721_1722del | ENSP00000500186.1:n.1721_1722del | |
| ENST00000334961.11:c.1453_1454del | ENSP00000335652.7:p.Arg485GlyfsTer10 | |
| ENST00000338641.8:c.1702_1703del | ENSP00000344666.4:p.Arg568GlyfsTer10 | |
| ENST00000353887.8:c.1453_1454del | ENSP00000340626.4:p.Arg485GlyfsTer10 | |
| ENST00000361166.8:c.1702_1703del | ENSP00000354529.4:p.Arg568GlyfsTer10 | |
| ENST00000361452.8:c.1579_1580del | ENSP00000354897.4:p.Arg527GlyfsTer10 | |
| ENST00000361676.8:c.1576_1577del | ENSP00000355183.4:p.Arg526GlyfsTer10 | |
| ENST00000397789.3:c.1702_1703del | ENSP00000380891.3:p.Arg568GlyfsTer10 | |
| ENST00000403435.5:c.1615_1616del | ENSP00000384029.1:p.Arg539GlyfsTer10 | |
| ENST00000403999.7:c.1702_1703del | ENSP00000384797.3:p.Arg568GlyfsTer10 | |
| ENST00000413209.6:c.448-13186_448-13185del | ENSP00000409921.2:n.448-13186_448-13185de... | |
| ENST00000432151.5:c.*93+3243_*93+3244del | ENSP00000395885.1:n.*93+3243_*93+3244del | |
| NM_000268.3:c.1702_1703del , LRG_511t1:c.1702_1703del | NP_000259.1:p.Arg568GlyfsTer10 | |
| NM_016418.5:c.1702_1703del , LRG_511t2:c.1702_1703del | NP_057502.2:p.Arg568GlyfsTer10 | |
| NM_181825.2:c.1702_1703del | NP_861546.1:p.Arg568GlyfsTer10 | |
| NM_181828.2:c.1576_1577del | NP_861966.1:p.Arg526GlyfsTer10 | |
| NM_181829.2:c.1579_1580del | NP_861967.1:p.Arg527GlyfsTer10 | |
| NM_181830.2:c.1453_1454del | NP_861968.1:p.Arg485GlyfsTer10 | |
| NM_181831.2:c.1453_1454del | NP_861969.1:p.Arg485GlyfsTer10 | |
| NM_181832.2:c.1702_1703del | NP_861970.1:p.Arg568GlyfsTer10 | |
| NM_181833.2:c.448-13186_448-13185del | NP_861971.1:n.448-13186_448-13185del | |
| NR_156186.1:n.2261_2262del | ||
| XM_017028809.2:c.1588_1589del | XP_016884298.1:p.Arg530GlyfsTer10 | |
| XM_017028810.1:c.1588_1589del | XP_016884299.1:p.Arg530GlyfsTer10 | |
| NM_000268.4:c.1702_1703del MANE Select | NP_000259.1:p.Arg568GlyfsTer10 | |
| NM_181825.3:c.1702_1703del | NP_861546.1:p.Arg568GlyfsTer10 | |
| NM_181828.3:c.1576_1577del | NP_861966.1:p.Arg526GlyfsTer10 | |
| NM_181829.3:c.1579_1580del | NP_861967.1:p.Arg527GlyfsTer10 | |
| NM_181830.3:c.1453_1454del | NP_861968.1:p.Arg485GlyfsTer10 | |
| NM_181831.3:c.1453_1454del | NP_861969.1:p.Arg485GlyfsTer10 | |
| NM_181832.3:c.1702_1703del | NP_861970.1:p.Arg568GlyfsTer10 | |
| NR_156186.2:n.2184_2185del | ||
| NM_181833.3:c.448-13186_448-13185del | NP_861971.1:n.448-13186_448-13185del |