Linked Data
ClinVar Variation Id:
2584700
ClinVar RCV Id:
RCV003336668
gnomAD v4:
3-120670521-C-CTATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670522_120670525dup , CM000665.2:g.120670522_120670525dup | GRCh38 |
| NC_000003.11:g.120389369_120389372dup , CM000665.1:g.120389369_120389372dup | GRCh37 |
| NC_000003.10:g.121872059_121872062dup | NCBI36 |
| NG_011957.1:g.16957_16960dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.184_187dup MANE Select | ENSP00000283871.5:p.Arg63IlefsTer2 | |
| ENST00000283871.9:c.184_187dup | ENSP00000283871.5:p.Arg63IlefsTer2 | |
| ENST00000466528.5:n.210_213dup | ||
| ENST00000476082.2:c.61_64dup | ENSP00000419560.2:p.Arg22IlefsTer2 | |
| ENST00000485313.5:n.292_295dup | ||
| ENST00000488183.5:n.442_445dup | ||
| NM_000187.3:c.184_187dup | NP_000178.2:p.Arg63IlefsTer2 | |
| XM_005247412.1:c.184_187dup | XP_005247469.1:p.Arg63IlefsTer2 | |
| XM_005247413.1:c.184_187dup | XP_005247470.1:p.Arg63IlefsTer2 | |
| XM_005247414.3:c.184_187dup | XP_005247471.1:p.Arg63IlefsTer2 | |
| XM_011512746.1:c.184_187dup | XP_011511048.1:p.Arg63IlefsTer2 | |
| XM_005247412.2:c.184_187dup | XP_005247469.1:p.Arg63IlefsTer2 | |
| XM_005247413.2:c.184_187dup | XP_005247470.1:p.Arg63IlefsTer2 | |
| XM_005247414.5:c.184_187dup | XP_005247471.1:p.Arg63IlefsTer2 | |
| XM_011512746.2:c.184_187dup | XP_011511048.1:p.Arg63IlefsTer2 | |
| XM_017006277.2:c.-240_-237dup | XP_016861766.1:n.-240_-237dup | |
| NM_000187.4:c.184_187dup MANE Select | NP_000178.2:p.Arg63IlefsTer2 |