Linked Data
ClinVar Variation Id:
409824
ClinVar RCV Id:
RCV000466387
dbSNP Id:
rs1555884845
MyVariant Identifiers:
chr21:g.36164592dupA (hg19)
chr21:g.36164591_36164592insA (hg19)
chr21:g.34792295dupA (hg38)
chr21:g.34792294_34792295insA (hg38)
ERepo:
CA16616491/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792295dup , CM000683.2:g.34792295dup | GRCh38 |
| NC_000021.8:g.36164592dup , CM000683.1:g.36164592dup | GRCh37 |
| NC_000021.7:g.35086462dup | NCBI36 |
| NG_011402.2:g.1197417dup , LRG_482:g.1197417dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1283dup MANE Select | ENSP00000501943.1:p.Leu429ProfsTer? | |
| ENST00000300305.7:c.1283dup | ENSP00000300305.3:p.Leu429ProfsTer? | |
| ENST00000344691.8:c.1202dup | ENSP00000340690.4:p.Leu402ProfsTer? | |
| ENST00000399240.5:c.1010dup | ENSP00000382184.1:p.Leu338ProfsTer? | |
| ENST00000437180.5:c.1283dup | ENSP00000409227.1:p.Leu429ProfsTer? | |
| ENST00000482318.5:c.*873dup | ENSP00000477067.1:n.*873dup | |
| NM_001001890.2:c.1202dup | NP_001001890.1:p.Leu402ProfsTer? | |
| NM_001754.4:c.1283dup , LRG_482t1:c.1283dup | NP_001745.2:p.Leu429ProfsTer? | |
| XM_005261068.3:c.1247dup | XP_005261125.1:p.Leu417ProfsTer? | |
| XM_005261069.3:c.1091dup | XP_005261126.1:p.Leu365ProfsTer? | |
| XM_011529766.1:c.1283dup | XP_011528068.1:p.Leu429ProfsTer? | |
| XM_011529767.1:c.1244dup | XP_011528069.1:p.Leu416ProfsTer? | |
| XM_011529768.1:c.1052dup | XP_011528070.1:p.Leu352ProfsTer? | |
| XM_005261069.4:c.1091dup | XP_005261126.1:p.Leu365ProfsTer? | |
| XM_011529766.2:c.1283dup | XP_011528068.1:p.Leu429ProfsTer? | |
| XM_011529767.2:c.1244dup | XP_011528069.1:p.Leu416ProfsTer? | |
| XM_011529768.2:c.1052dup | XP_011528070.1:p.Leu352ProfsTer? | |
| XM_017028487.1:c.1130dup | XP_016883976.1:p.Leu378ProfsTer? | |
| NM_001001890.3:c.1202dup | NP_001001890.1:p.Leu402ProfsTer? | |
| NM_001754.5:c.1283dup MANE Select | NP_001745.2:p.Leu429ProfsTer? |