Linked Data
ClinVar Variation Id:
127406
ClinVar RCV Id:
RCV000115211
dbSNP Id:
rs587779847
MyVariant Identifiers:
chr11:g.108173589_108173609dup21 (hg19)
chr11:g.108302862_108302882dup21 (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302862_108302882dup , CM000673.2:g.108302862_108302882dup | GRCh38 |
| NC_000011.9:g.108173589_108173609dup , CM000673.1:g.108173589_108173609dup | GRCh37 |
| NC_000011.8:g.107678799_107678819dup | NCBI36 |
| NG_009830.1:g.85031_85051dup , LRG_135:g.85031_85051dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5329_5349dup | ENSP00000388058.2:p.Glu1783_Asn1784insVal... | |
| ENST00000713593.1:c.*4800_*4820dup | ENSP00000518889.1:n.*4800_*4820dup | |
| ENST00000278616.9:c.5329_5349dup | ENSP00000278616.4:p.Glu1783_Asn1784insVal... | |
| ENST00000683174.1:n.6813_6833dup | ||
| ENST00000683524.1:n.553_573dup | ||
| ENST00000684152.1:n.1043_1063dup | ||
| ENST00000527805.6:c.*393_*413dup | ENSP00000435747.2:n.*393_*413dup | |
| ENST00000675595.1:c.*393_*413dup | ENSP00000502563.1:n.*393_*413dup | |
| ENST00000675843.1:c.5329_5349dup MANE Select | ENSP00000501606.1:p.Glu1783_Asn1784insVal... | |
| ENST00000278616.8:c.5329_5349dup | ENSP00000278616.4:p.Glu1783_Asn1784insVal... | |
| ENST00000452508.6:c.5329_5349dup | ENSP00000388058.2:p.Glu1783_Asn1784insVal... | |
| ENST00000524792.5:n.1544_1564dup | ||
| ENST00000533690.5:n.733_753dup | ||
| ENST00000534625.1:n.558_578dup | ||
| NM_000051.3:c.5329_5349dup , LRG_135t1:c.5329_5349dup | NP_000042.3:p.Glu1783_Asn1784insValProArg... | |
| XM_005271561.3:c.5329_5349dup | XP_005271618.2:p.Glu1783_Asn1784insValPro... | |
| XM_005271562.3:c.5329_5349dup | XP_005271619.2:p.Glu1783_Asn1784insValPro... | |
| XM_006718843.2:c.5329_5349dup | XP_006718906.1:p.Glu1783_Asn1784insValPro... | |
| XM_006718845.1:c.1285_1305dup | XP_006718908.1:p.Glu435_Asn436insValProAr... | |
| XM_011542840.1:c.5329_5349dup | XP_011541142.1:p.Glu1783_Asn1784insValPro... | |
| XM_011542841.1:c.5329_5349dup | XP_011541143.1:p.Glu1783_Asn1784insValPro... | |
| XM_011542842.1:c.5164_5184dup | XP_011541144.1:p.Glu1728_Asn1729insValPro... | |
| XM_011542843.1:c.5329_5349dup | XP_011541145.1:p.Glu1783_Asn1784insValPro... | |
| XM_011542844.1:c.4285_4305dup | XP_011541146.1:p.Glu1435_Asn1436insValPro... | |
| XM_011542845.1:c.4021_4041dup | XP_011541147.1:p.Glu1347_Asn1348insValPro... | |
| XM_011542846.1:c.5330_*7dup | XP_011541148.1:n.5330_*7dup | |
| XM_011542847.1:c.400_420dup | XP_011541149.1:p.Glu140_Asn141insValProAr... | |
| NM_001351834.1:c.5329_5349dup | NP_001338763.1:p.Glu1783_Asn1784insValPro... | |
| XM_005271562.5:c.5329_5349dup | XP_005271619.2:p.Glu1783_Asn1784insValPro... | |
| XM_006718843.4:c.5329_5349dup | XP_006718906.1:p.Glu1783_Asn1784insValPro... | |
| XM_006718845.2:c.1285_1305dup | XP_006718908.1:p.Glu435_Asn436insValProAr... | |
| XM_011542840.3:c.5329_5349dup | XP_011541142.1:p.Glu1783_Asn1784insValPro... | |
| XM_011542842.3:c.5164_5184dup | XP_011541144.1:p.Glu1728_Asn1729insValPro... | |
| XM_011542843.2:c.5329_5349dup | XP_011541145.1:p.Glu1783_Asn1784insValPro... | |
| XM_011542844.3:c.4285_4305dup | XP_011541146.1:p.Glu1435_Asn1436insValPro... | |
| XM_011542845.2:c.4021_4041dup | XP_011541147.1:p.Glu1347_Asn1348insValPro... | |
| XM_017017789.2:c.5329_5349dup | XP_016873278.1:p.Glu1783_Asn1784insValPro... | |
| XM_017017790.2:c.5329_5349dup | XP_016873279.1:p.Glu1783_Asn1784insValPro... | |
| XM_017017791.1:c.5329_5349dup | XP_016873280.1:p.Glu1783_Asn1784insValPro... | |
| XM_017017792.2:c.*10_*30dup | XP_016873281.1:n.*10_*30dup | |
| XR_002957150.1:n.5929_5949dup | ||
| NM_001351834.2:c.5329_5349dup | NP_001338763.1:p.Glu1783_Asn1784insValPro... | |
| NM_000051.4:c.5329_5349dup MANE Select | NP_000042.3:p.Glu1783_Asn1784insValProArg... |