Linked Data
ClinVar Variation Id:
370262
ClinVar RCV Id:
RCV000410022
dbSNP Id:
rs1057516358
MyVariant Identifiers:
chr11:g.108170565_108170566delinsAC (hg19)
chr11:g.108299838_108299839delinsAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108299838_108299839delinsAC , CM000673.2:g.108299838_108299839delinsAC | GRCh38 |
| NC_000011.9:g.108170565_108170566delinsAC , CM000673.1:g.108170565_108170566delinsAC | GRCh37 |
| NC_000011.8:g.107675775_107675776delinsAC | NCBI36 |
| NG_009830.1:g.82007_82008delinsAC , LRG_135:g.82007_82008delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5130_5131delinsAC | ENSP00000388058.2:p.Trp1710Ter | |
| ENST00000713593.1:c.*4601_*4602delinsAC | ENSP00000518889.1:n.*4601_*4602delinsAC | |
| ENST00000278616.9:c.5130_5131delinsAC | ENSP00000278616.4:p.Trp1710Ter | |
| ENST00000683174.1:n.6614_6615delinsAC | ||
| ENST00000683524.1:n.354_355delinsAC | ||
| ENST00000684152.1:n.844_845delinsAC | ||
| ENST00000527805.6:c.*194_*195delinsAC | ENSP00000435747.2:n.*194_*195delinsAC | |
| ENST00000675595.1:c.*194_*195delinsAC | ENSP00000502563.1:n.*194_*195delinsAC | |
| ENST00000675843.1:c.5130_5131delinsAC MANE Select | ENSP00000501606.1:p.Trp1710Ter | |
| ENST00000278616.8:c.5130_5131delinsAC | ENSP00000278616.4:p.Trp1710Ter | |
| ENST00000452508.6:c.5130_5131delinsAC | ENSP00000388058.2:p.Trp1710Ter | |
| ENST00000524792.5:n.1345_1346delinsAC | ||
| ENST00000533690.5:n.534_535delinsAC | ||
| ENST00000534625.1:n.359_360delinsAC | ||
| NM_000051.3:c.5130_5131delinsAC , LRG_135t1:c.5130_5131delinsAC | NP_000042.3:p.Trp1710Ter | |
| XM_005271561.3:c.5130_5131delinsAC | XP_005271618.2:p.Trp1710Ter | |
| XM_005271562.3:c.5130_5131delinsAC | XP_005271619.2:p.Trp1710Ter | |
| XM_006718843.2:c.5130_5131delinsAC | XP_006718906.1:p.Trp1710Ter | |
| XM_006718845.1:c.1086_1087delinsAC | XP_006718908.1:p.Trp362Ter | |
| XM_011542840.1:c.5130_5131delinsAC | XP_011541142.1:p.Trp1710Ter | |
| XM_011542841.1:c.5130_5131delinsAC | XP_011541143.1:p.Trp1710Ter | |
| XM_011542842.1:c.4965_4966delinsAC | XP_011541144.1:p.Trp1655Ter | |
| XM_011542843.1:c.5130_5131delinsAC | XP_011541145.1:p.Trp1710Ter | |
| XM_011542844.1:c.4086_4087delinsAC | XP_011541146.1:p.Trp1362Ter | |
| XM_011542845.1:c.3822_3823delinsAC | XP_011541147.1:p.Trp1274Ter | |
| XM_011542846.1:c.5130_5131delinsAC | XP_011541148.1:p.Trp1710Ter | |
| XM_011542847.1:c.201_202delinsAC | XP_011541149.1:p.Trp67Ter | |
| NM_001351834.1:c.5130_5131delinsAC | NP_001338763.1:p.Trp1710Ter | |
| XM_005271562.5:c.5130_5131delinsAC | XP_005271619.2:p.Trp1710Ter | |
| XM_006718843.4:c.5130_5131delinsAC | XP_006718906.1:p.Trp1710Ter | |
| XM_006718845.2:c.1086_1087delinsAC | XP_006718908.1:p.Trp362Ter | |
| XM_011542840.3:c.5130_5131delinsAC | XP_011541142.1:p.Trp1710Ter | |
| XM_011542842.3:c.4965_4966delinsAC | XP_011541144.1:p.Trp1655Ter | |
| XM_011542843.2:c.5130_5131delinsAC | XP_011541145.1:p.Trp1710Ter | |
| XM_011542844.3:c.4086_4087delinsAC | XP_011541146.1:p.Trp1362Ter | |
| XM_011542845.2:c.3822_3823delinsAC | XP_011541147.1:p.Trp1274Ter | |
| XM_017017789.2:c.5130_5131delinsAC | XP_016873278.1:p.Trp1710Ter | |
| XM_017017790.2:c.5130_5131delinsAC | XP_016873279.1:p.Trp1710Ter | |
| XM_017017791.1:c.5130_5131delinsAC | XP_016873280.1:p.Trp1710Ter | |
| XM_017017792.2:c.5130_5131delinsAC | XP_016873281.1:p.Trp1710Ter | |
| XR_002957150.1:n.5730_5731delinsAC | ||
| NM_001351834.2:c.5130_5131delinsAC | NP_001338763.1:p.Trp1710Ter | |
| NM_000051.4:c.5130_5131delinsAC MANE Select | NP_000042.3:p.Trp1710Ter |