Linked Data
ClinVar Variation Id:
13800
dbSNP Id:
rs387906530
MyVariant Identifiers:
chr10:g.102510459_102510464dupAGACCG (hg19)
chr10:g.100750702_100750707dupAGACCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100750702_100750707dup , CM000672.2:g.100750702_100750707dup | GRCh38 |
| NC_000010.10:g.102510459_102510464dup , CM000672.1:g.102510459_102510464dup | GRCh37 |
| NC_000010.9:g.102500449_102500454dup | NCBI36 |
| NG_008680.1:g.9992_9997dup | |
| NG_008680.2:g.19994_19999dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.314_319dup | ENSP00000516729.1:p.Thr106_Gly107insGluTh... | |
| ENST00000707079.1:c.221_226dup | ENSP00000516730.1:p.Thr75_Gly76insGluThr | |
| ENST00000355243.8:c.221_226dup MANE Select | ENSP00000347385.3:p.Thr75_Gly76insGluThr | |
| ENST00000427256.6:c.221_226dup | ENSP00000398652.2:p.Thr75_Gly76insGluThr | |
| ENST00000679374.1:c.203_208dup | ENSP00000506041.1:p.Thr69_Gly70insGluThr | |
| ENST00000355243.7:c.221_226dup | ENSP00000347385.2:p.Thr75_Gly76insGluThr | |
| ENST00000361791.7:c.218_223dup | ENSP00000355069.4:p.Thr74_Gly75insGluThr | |
| ENST00000370296.6:c.221_226dup | ENSP00000359319.3:p.Thr75_Gly76insGluThr | |
| ENST00000427256.5:c.221_226dup | ENSP00000398652.1:p.Thr75_Gly76insGluThr | |
| ENST00000428433.5:c.221_226dup | ENSP00000396259.1:p.Thr75_Gly76insGluThr | |
| ENST00000553492.5:n.131+14969_131+14974dup | ||
| ENST00000554172.2:c.233_238dup | ENSP00000452489.2:p.Thr79_Gly80insGluThr | |
| ENST00000554363.2:n.125+4399_125+4404dup | ||
| NM_000278.3:c.221_226dup | NP_000269.2:p.Thr75_Gly76insGluThr | |
| NM_001304569.1:c.314_319dup | NP_001291498.1:p.Thr106_Gly107insGluThr | |
| NM_003987.3:c.221_226dup | NP_003978.2:p.Thr75_Gly76insGluThr | |
| NM_003988.3:c.221_226dup | NP_003979.2:p.Thr75_Gly76insGluThr | |
| NM_003989.3:c.221_226dup | NP_003980.2:p.Thr75_Gly76insGluThr | |
| NM_003990.3:c.221_226dup | NP_003981.2:p.Thr75_Gly76insGluThr | |
| NM_000278.4:c.221_226dup | NP_000269.3:p.Thr75_Gly76insGluThr | |
| NM_003987.4:c.221_226dup | NP_003978.3:p.Thr75_Gly76insGluThr | |
| NM_003988.4:c.221_226dup | NP_003979.2:p.Thr75_Gly76insGluThr | |
| NM_003989.4:c.221_226dup | NP_003980.3:p.Thr75_Gly76insGluThr | |
| NM_003990.4:c.221_226dup | NP_003981.3:p.Thr75_Gly76insGluThr | |
| NM_000278.5:c.221_226dup MANE Select | NP_000269.3:p.Thr75_Gly76insGluThr | |
| NM_001304569.2:c.314_319dup | NP_001291498.1:p.Thr106_Gly107insGluThr | |
| NM_003987.5:c.221_226dup | NP_003978.3:p.Thr75_Gly76insGluThr | |
| NM_003988.5:c.221_226dup | NP_003979.2:p.Thr75_Gly76insGluThr | |
| NM_003989.5:c.221_226dup | NP_003980.3:p.Thr75_Gly76insGluThr | |
| NM_003990.5:c.221_226dup | NP_003981.3:p.Thr75_Gly76insGluThr |