Linked Data
ClinVar Variation Id:
553324
ClinVar RCV Id:
RCV000668743
dbSNP Id:
rs1554793268
MyVariant Identifiers:
chr10:g.49524288_49524296dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524290_49524298dup , CM000672.2:g.49524290_49524298dup | GRCh38 |
| NC_000010.10:g.50732336_50732344dup , CM000672.1:g.50732336_50732344dup | GRCh37 |
| NC_000010.9:g.50402342_50402350dup | NCBI36 |
| NG_009442.1:g.19806_19814dup , LRG_465:g.19806_19814dup | |
| NG_033155.1:g.4986_4994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1134_1142dup MANE Select | ENSP00000348089.5:p.Glu381_Glu382insGluGluGlu | |
| ENST00000447839.7:c.1134_1142dup MANE Plus Clinical | ENSP00000387966.2:p.Glu381_Glu382insGluGluGlu | |
| ENST00000679596.1:c.*763_*771dup | ENSP00000504862.1:n.*763_*771dup | |
| ENST00000679811.1:n.1217_1225dup | ||
| ENST00000680107.1:c.652+4121_652+4129dup | ENSP00000505909.1:n.652+4121_652+4129dup | |
| ENST00000680233.1:n.1227_1235dup | ||
| ENST00000681632.1:n.1212_1220dup | ||
| ENST00000681659.1:c.1134_1142dup | ENSP00000505631.1:p.Glu381_Glu382insGluGluGlu | |
| ENST00000355832.9:c.1134_1142dup | ENSP00000348089.5:p.Glu381_Glu382insGluGluGlu | |
| ENST00000447839.6:c.1134_1142dup | ENSP00000387966.2:p.Glu381_Glu382insGluGluGlu | |
| ENST00000515869.1:c.1134_1142dup | ENSP00000423550.1:p.Glu381_Glu382insGluGluGlu | |
| NM_000124.3:c.1134_1142dup | NP_000115.1:p.Glu381_Glu382insGluGluGlu | |
| NM_001277058.1:c.1134_1142dup | NP_001263987.1:p.Glu381_Glu382insGluGluGlu | |
| NM_001277059.1:c.1134_1142dup | NP_001263988.1:p.Glu381_Glu382insGluGluGlu | |
| NM_001346440.1:c.1134_1142dup | NP_001333369.1:p.Glu381_Glu382insGluGluGlu | |
| NM_000124.4:c.1134_1142dup MANE Select | NP_000115.1:p.Glu381_Glu382insGluGluGlu | |
| NM_001277058.2:c.1134_1142dup MANE Plus Clinical | NP_001263987.1:p.Glu381_Glu382insGluGluGlu | |
| NM_001277059.2:c.1134_1142dup | NP_001263988.1:p.Glu381_Glu382insGluGluGlu | |
| NM_001346440.2:c.1134_1142dup | NP_001333369.1:p.Glu381_Glu382insGluGluGlu |