Linked Data
ClinVar Variation Id:
2676487
ClinVar RCV Id:
RCV003470081
dbSNP Id:
rs1349001113
gnomAD v4:
5-71635166-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635167dup , CM000667.2:g.71635167dup | GRCh38 |
| NC_000005.9:g.70930994dup , CM000667.1:g.70930994dup | GRCh37 |
| NC_000005.8:g.70966750dup | NCBI36 |
| NG_008882.1:g.52880dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.876dup | ||
| ENST00000505787.8:n.2760dup | ||
| ENST00000509358.7:c.920dup | ENSP00000420994.3:p.Glu308Ter | |
| ENST00000509539.3:c.182dup | ENSP00000425474.3:p.Glu62Ter | |
| ENST00000510895.7:n.1043dup | ||
| ENST00000629193.3:c.806dup | ENSP00000486535.2:p.Glu270Ter | |
| ENST00000681968.1:c.413dup | ENSP00000508143.1:p.Glu139Ter | |
| ENST00000682045.1:c.776dup | ENSP00000507329.1:p.Glu260Ter | |
| ENST00000682214.1:c.527dup | ENSP00000507336.1:p.Glu177Ter | |
| ENST00000682499.1:n.1741dup | ||
| ENST00000682541.1:c.920dup | ENSP00000507673.1:p.Glu308Ter | |
| ENST00000682687.1:c.920dup | ENSP00000507945.1:p.Glu308Ter | |
| ENST00000682727.1:c.920dup | ENSP00000507393.1:p.Glu308Ter | |
| ENST00000682876.1:c.1049dup | ENSP00000508389.1:p.Glu351Ter | |
| ENST00000683098.1:c.803+2982dup | ENSP00000507670.1:n.803+2982dup | |
| ENST00000683258.1:c.*641dup | ENSP00000507448.1:n.*641dup | |
| ENST00000683339.1:c.704dup | ENSP00000507758.1:p.Glu236Ter | |
| ENST00000683403.1:c.830dup | ENSP00000507896.1:p.Glu278Ter | |
| ENST00000683429.1:c.527dup | ENSP00000507697.1:p.Glu177Ter | |
| ENST00000683665.1:c.920dup | ENSP00000507068.1:p.Glu308Ter | |
| ENST00000683789.1:c.806dup | ENSP00000507012.1:p.Glu270Ter | |
| ENST00000683847.1:n.764dup | ||
| ENST00000683882.1:c.920dup | ENSP00000506735.1:p.Glu308Ter | |
| ENST00000684024.1:c.*591dup | ENSP00000507175.1:n.*591dup | |
| ENST00000684254.1:c.*646dup | ENSP00000508001.1:n.*646dup | |
| ENST00000684310.1:c.165+125dup | ENSP00000507550.1:n.165+125dup | |
| ENST00000684530.1:c.182dup | ENSP00000507439.1:p.Glu62Ter | |
| ENST00000684652.1:n.1922dup | ||
| ENST00000340941.11:c.920dup MANE Select | ENSP00000343657.6:p.Glu308Ter | |
| ENST00000340941.10:c.920dup | ENSP00000343657.6:p.Glu308Ter | |
| ENST00000505435.3:n.271dup | ||
| ENST00000509358.6:c.920dup | ENSP00000420994.2:p.Glu308Ter | |
| ENST00000509539.2:c.245dup | ENSP00000425474.2:p.Glu83Ter | |
| ENST00000510895.6:n.534dup | ||
| ENST00000512218.6:c.806dup | ENSP00000423202.2:p.Glu270Ter | |
| ENST00000629193.2:c.806dup | ENSP00000486535.1:p.Glu270Ter | |
| NM_022132.4:c.920dup | NP_071415.1:p.Glu308Ter | |
| XM_005248567.1:c.806dup | XP_005248624.1:p.Glu270Ter | |
| XM_011543528.1:c.920dup | XP_011541830.1:p.Glu308Ter | |
| XM_011543529.1:c.920dup | XP_011541831.1:p.Glu308Ter | |
| NM_001363147.1:c.806dup | NP_001350076.1:p.Glu270Ter | |
| XM_011543529.2:c.920dup | XP_011541831.1:p.Glu308Ter | |
| XM_017009688.1:c.920dup | XP_016865177.1:p.Glu308Ter | |
| XR_001742172.1:n.960dup | ||
| NM_022132.5:c.920dup MANE Select | NP_071415.1:p.Glu308Ter |