Linked Data
ClinVar Variation Id:
958886
ClinVar RCV Id:
RCV001232136
dbSNP Id:
rs1667576996
gnomAD v4:
2-47482782-G-GGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482784_47482785dup , CM000664.2:g.47482784_47482785dup | GRCh38 |
| NC_000002.11:g.47709923_47709924dup , CM000664.1:g.47709923_47709924dup | GRCh37 |
| NC_000002.10:g.47563427_47563428dup | NCBI36 |
| NG_007110.2:g.84661_84662dup , LRG_218:g.84661_84662dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.2634+1913_2634+1914dup | ENSP00000495641.2:n.2634+1913_2634+1914du... | |
| ENST00000233146.7:c.2640_2641dup MANE Select | ENSP00000233146.2:p.Glu881ValfsTer12 | |
| ENST00000543555.6:c.2442_2443dup | ENSP00000442697.1:p.Glu815ValfsTer12 | |
| ENST00000644092.1:c.*934+1913_*934+1914dup | ENSP00000496351.1:n.*934+1913_*934+1914du... | |
| ENST00000644900.1:c.487+1913_487+1914dup | ||
| ENST00000645339.1:c.2634+1913_2634+1914dup | ENSP00000496441.1:n.2634+1913_2634+1914du... | |
| ENST00000645506.1:c.2634+1913_2634+1914dup | ENSP00000495455.1:n.2634+1913_2634+1914du... | |
| ENST00000646415.1:c.2634+1913_2634+1914dup | ENSP00000495543.1:n.2634+1913_2634+1914du... | |
| ENST00000233146.6:c.2640_2641dup | ENSP00000233146.2:p.Glu881ValfsTer12 | |
| ENST00000406134.5:c.2634+1913_2634+1914dup | ENSP00000384199.1:n.2634+1913_2634+1914du... | |
| ENST00000461394.5:n.75+1913_75+1914dup | ||
| ENST00000543555.5:c.2442_2443dup | ENSP00000442697.1:p.Glu815ValfsTer12 | |
| ENST00000610696.4:c.*1036_*1037dup | ENSP00000483159.1:n.*1036_*1037dup | |
| ENST00000613514.4:c.*1180_*1181dup | ENSP00000484137.1:n.*1180_*1181dup | |
| ENST00000617333.3:c.*1406_*1407dup | ENSP00000482468.1:n.*1406_*1407dup | |
| ENST00000617938.4:c.*1612_*1613dup | ENSP00000481158.1:n.*1612_*1613dup | |
| ENST00000621359.2:c.*206_*207dup | ENSP00000481416.1:n.*206_*207dup | |
| NM_000251.2:c.2640_2641dup , LRG_218t1:c.2640_2641dup | NP_000242.1:p.Glu881ValfsTer12 | |
| NM_001258281.1:c.2442_2443dup | NP_001245210.1:p.Glu815ValfsTer12 | |
| XM_005264332.2:c.2634+1913_2634+1914dup | XP_005264389.2:n.2634+1913_2634+1914dup | |
| XM_011532867.1:c.2634+1913_2634+1914dup | XP_011531169.1:n.2634+1913_2634+1914dup | |
| XR_939685.1:n.2706+1913_2706+1914dup | ||
| XM_005264332.4:c.2634+1913_2634+1914dup | XP_005264389.2:n.2634+1913_2634+1914dup | |
| XM_011532867.2:c.2634+1913_2634+1914dup | XP_011531169.1:n.2634+1913_2634+1914dup | |
| XR_001738747.2:n.2696+1913_2696+1914dup | ||
| XR_939685.2:n.2696+1913_2696+1914dup | ||
| NM_000251.3:c.2640_2641dup MANE Select | NP_000242.1:p.Glu881ValfsTer12 |