Linked Data
ClinVar Variation Id:
1442613
ClinVar RCV Id:
RCV001960310
dbSNP Id:
rs780893174
ExAC:
10:79797064 T / TA
gnomAD v2:
10-79797064-T-TA
gnomAD v3:
10-78037306-T-TA
gnomAD v4:
10-78037306-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78037307dup , CM000672.2:g.78037307dup | GRCh38 |
| NC_000010.10:g.79797065dup , CM000672.1:g.79797065dup | GRCh37 |
| NC_000010.9:g.79467071dup | NCBI36 |
| NG_012633.1:g.8548dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360830.9:c.390+3dup | ENSP00000354074.5:n.390+3dup | |
| ENST00000372360.9:c.390+3dup MANE Select | ENSP00000361435.4:n.390+3dup | |
| ENST00000440692.6:c.390+3dup | ENSP00000414321.1:n.390+3dup | |
| ENST00000464716.6:c.390+3dup | ENSP00000494231.1:n.390+3dup | |
| ENST00000465692.2:n.401+3dup | ||
| ENST00000476545.6:c.390+3dup | ENSP00000494169.1:n.390+3dup | |
| ENST00000478655.6:n.432dup | ||
| ENST00000485708.7:n.429+3dup | ||
| ENST00000613865.5:c.390+3dup | ENSP00000478869.2:n.390+3dup | |
| ENST00000645195.1:c.266+3dup | ||
| ENST00000645440.1:c.390+3dup | ENSP00000496738.1:n.390+3dup | |
| ENST00000645698.1:n.418+3dup | ||
| ENST00000360830.8:c.390+3dup | ENSP00000354074.4:n.390+3dup | |
| ENST00000372360.7:c.390+3dup | ENSP00000361435.3:n.390+3dup | |
| ENST00000435275.5:c.390+3dup | ENSP00000415549.1:n.390+3dup | |
| ENST00000440692.5:c.390+3dup | ENSP00000414321.1:n.390+3dup | |
| ENST00000464716.5:n.418+3dup | ||
| ENST00000465692.1:n.387+3dup | ||
| ENST00000476545.5:n.414+3dup | ||
| ENST00000478655.5:n.432dup | ||
| ENST00000482069.5:n.457+3dup | ||
| ENST00000485708.6:n.448+3dup | ||
| ENST00000613865.4:c.390+3dup | ENSP00000478869.1:n.390+3dup | |
| NM_001026.4:c.390+3dup | NP_001017.1:n.390+3dup | |
| NM_001142282.1:c.390+3dup | NP_001135754.1:n.390+3dup | |
| NM_001142283.1:c.390+3dup | NP_001135755.1:n.390+3dup | |
| NM_001142284.1:c.390+3dup | NP_001135756.1:n.390+3dup | |
| NM_001142285.1:c.390+3dup | NP_001135757.1:n.390+3dup | |
| NM_033022.3:c.390+3dup | NP_148982.1:n.390+3dup | |
| XM_011540034.1:c.543+3dup | XP_011538336.1:n.543+3dup | |
| XM_011540035.1:c.543+3dup | XP_011538337.1:n.543+3dup | |
| XM_011540036.1:c.543+3dup | XP_011538338.1:n.543+3dup | |
| XM_011540037.1:c.543+3dup | XP_011538339.1:n.543+3dup | |
| XM_011540038.1:c.543+3dup | XP_011538340.1:n.543+3dup | |
| NM_001142285.2:c.390+3dup | NP_001135757.1:n.390+3dup | |
| NM_033022.4:c.390+3dup MANE Select | NP_148982.1:n.390+3dup | |
| NM_001026.5:c.390+3dup | NP_001017.1:n.390+3dup | |
| NM_001142282.2:c.390+3dup | NP_001135754.1:n.390+3dup | |
| NM_001142283.2:c.390+3dup | NP_001135755.1:n.390+3dup | |
| NM_001142284.2:c.390+3dup | NP_001135756.1:n.390+3dup |