Linked Data
ClinVar Variation Id:
2825619
ClinVar RCV Id:
RCV003681084
dbSNP Id:
rs769554073
ExAC:
11:128709634 G / GT
gnomAD v2:
11-128709634-G-GT
gnomAD v4:
11-128839739-G-GT
MyVariant Identifiers:
chr11:g.128709634_128709635insT (hg19)
chr11:g.128839739_128839740insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839745dup , CM000673.2:g.128839745dup | GRCh38 |
| NC_000011.9:g.128709640dup , CM000673.1:g.128709640dup | GRCh37 |
| NC_000011.8:g.128214850dup | NCBI36 |
| NG_009379.1:g.32634dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.504dup MANE Select | ENSP00000376434.1:p.Arg169ThrfsTer28 | |
| ENST00000324036.7:c.504dup | ENSP00000316233.3:p.Arg169ThrfsTer28 | |
| ENST00000392664.2:c.561dup | ENSP00000376432.2:p.Arg188ThrfsTer28 | |
| ENST00000392665.6:c.504dup | ENSP00000376433.2:p.Arg169ThrfsTer28 | |
| ENST00000392666.5:c.504dup | ENSP00000376434.1:p.Arg169ThrfsTer28 | |
| ENST00000440599.6:c.504dup | ENSP00000406320.2:p.Arg169ThrfsTer28 | |
| NM_000220.4:c.561dup | NP_000211.1:p.Arg188ThrfsTer28 | |
| NM_153764.2:c.504dup | NP_722448.1:p.Arg169ThrfsTer28 | |
| NM_153765.2:c.555dup | NP_722449.3:p.Arg186ThrfsTer28 | |
| NM_153766.2:c.504dup | NP_722450.1:p.Arg169ThrfsTer28 | |
| NM_153767.3:c.504dup | NP_722451.1:p.Arg169ThrfsTer28 | |
| NM_000220.6:c.561dup | NP_000211.1:p.Arg188ThrfsTer28 | |
| NM_153764.3:c.504dup | NP_722448.1:p.Arg169ThrfsTer28 | |
| NM_153765.3:c.555dup | NP_722449.3:p.Arg186ThrfsTer28 | |
| NM_153766.3:c.504dup MANE Select | NP_722450.1:p.Arg169ThrfsTer28 | |
| NM_153767.4:c.504dup | NP_722451.1:p.Arg169ThrfsTer28 |