Linked Data
ClinVar Variation Id:
181876
ClinVar RCV Id:
RCV000159634
dbSNP Id:
rs730881305
MyVariant Identifiers:
chr11:g.108172398_108172399insAT (hg19)
chr11:g.108301671_108301672insAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108301671_108301672insAT , CM000673.2:g.108301671_108301672insAT | GRCh38 |
| NC_000011.9:g.108172398_108172399insAT , CM000673.1:g.108172398_108172399insAT | GRCh37 |
| NC_000011.8:g.107677608_107677609insAT | NCBI36 |
| NG_009830.1:g.83840_83841insAT , LRG_135:g.83840_83841insAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5201_5202insAT | ENSP00000388058.2:p.Thr1735LeufsTer4 | |
| ENST00000713593.1:c.*4672_*4673insAT | ENSP00000518889.1:n.*4672_*4673insAT | |
| ENST00000278616.9:c.5201_5202insAT | ENSP00000278616.4:p.Thr1735LeufsTer4 | |
| ENST00000683174.1:n.6685_6686insAT | ||
| ENST00000683524.1:n.425_426insAT | ||
| ENST00000684152.1:n.915_916insAT | ||
| ENST00000527805.6:c.*265_*266insAT | ENSP00000435747.2:n.*265_*266insAT | |
| ENST00000675595.1:c.*265_*266insAT | ENSP00000502563.1:n.*265_*266insAT | |
| ENST00000675843.1:c.5201_5202insAT MANE Select | ENSP00000501606.1:p.Thr1735LeufsTer4 | |
| ENST00000278616.8:c.5201_5202insAT | ENSP00000278616.4:p.Thr1735LeufsTer4 | |
| ENST00000452508.6:c.5201_5202insAT | ENSP00000388058.2:p.Thr1735LeufsTer4 | |
| ENST00000524792.5:n.1416_1417insAT | ||
| ENST00000533690.5:n.605_606insAT | ||
| ENST00000534625.1:n.430_431insAT | ||
| NM_000051.3:c.5201_5202insAT , LRG_135t1:c.5201_5202insAT | NP_000042.3:p.Thr1735LeufsTer4 | |
| XM_005271561.3:c.5201_5202insAT | XP_005271618.2:p.Thr1735LeufsTer4 | |
| XM_005271562.3:c.5201_5202insAT | XP_005271619.2:p.Thr1735LeufsTer4 | |
| XM_006718843.2:c.5201_5202insAT | XP_006718906.1:p.Thr1735LeufsTer4 | |
| XM_006718845.1:c.1157_1158insAT | XP_006718908.1:p.Thr387LeufsTer4 | |
| XM_011542840.1:c.5201_5202insAT | XP_011541142.1:p.Thr1735LeufsTer4 | |
| XM_011542841.1:c.5201_5202insAT | XP_011541143.1:p.Thr1735LeufsTer4 | |
| XM_011542842.1:c.5036_5037insAT | XP_011541144.1:p.Thr1680LeufsTer4 | |
| XM_011542843.1:c.5201_5202insAT | XP_011541145.1:p.Thr1735LeufsTer4 | |
| XM_011542844.1:c.4157_4158insAT | XP_011541146.1:p.Thr1387LeufsTer4 | |
| XM_011542845.1:c.3893_3894insAT | XP_011541147.1:p.Thr1299LeufsTer4 | |
| XM_011542846.1:c.5201_5202insAT | XP_011541148.1:p.Thr1735LeufsTer4 | |
| XM_011542847.1:c.272_273insAT | XP_011541149.1:p.Thr92LeufsTer4 | |
| NM_001351834.1:c.5201_5202insAT | NP_001338763.1:p.Thr1735LeufsTer4 | |
| XM_005271562.5:c.5201_5202insAT | XP_005271619.2:p.Thr1735LeufsTer4 | |
| XM_006718843.4:c.5201_5202insAT | XP_006718906.1:p.Thr1735LeufsTer4 | |
| XM_006718845.2:c.1157_1158insAT | XP_006718908.1:p.Thr387LeufsTer4 | |
| XM_011542840.3:c.5201_5202insAT | XP_011541142.1:p.Thr1735LeufsTer4 | |
| XM_011542842.3:c.5036_5037insAT | XP_011541144.1:p.Thr1680LeufsTer4 | |
| XM_011542843.2:c.5201_5202insAT | XP_011541145.1:p.Thr1735LeufsTer4 | |
| XM_011542844.3:c.4157_4158insAT | XP_011541146.1:p.Thr1387LeufsTer4 | |
| XM_011542845.2:c.3893_3894insAT | XP_011541147.1:p.Thr1299LeufsTer4 | |
| XM_017017789.2:c.5201_5202insAT | XP_016873278.1:p.Thr1735LeufsTer4 | |
| XM_017017790.2:c.5201_5202insAT | XP_016873279.1:p.Thr1735LeufsTer4 | |
| XM_017017791.1:c.5201_5202insAT | XP_016873280.1:p.Thr1735LeufsTer4 | |
| XM_017017792.2:c.5201_5202insAT | XP_016873281.1:p.Thr1735LeufsTer4 | |
| XR_002957150.1:n.5801_5802insAT | ||
| NM_001351834.2:c.5201_5202insAT | NP_001338763.1:p.Thr1735LeufsTer4 | |
| NM_000051.4:c.5201_5202insAT MANE Select | NP_000042.3:p.Thr1735LeufsTer4 |