Linked Data
ClinVar Variation Id:
800583
ClinVar RCV Id:
RCV000984561
dbSNP Id:
rs1219292422
gnomAD v3:
6-32038962-A-ATCC
gnomAD v4:
6-32038962-A-ATCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038963_32038965dup , CM000668.2:g.32038963_32038965dup | GRCh38 |
| NC_000006.11:g.32006740_32006742dup , CM000668.1:g.32006740_32006742dup | GRCh37 |
| NC_000006.10:g.32114719_32114721dup | NCBI36 |
| NG_007941.2:g.5656_5658dup | |
| NG_007941.3:g.5659_5661dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.293-131_293-129dup MANE Select | ENSP00000496625.1:n.293-131_293-129dup | |
| ENST00000418967.6:c.293-131_293-129dup | ENSP00000408860.2:n.293-131_293-129dup | |
| ENST00000435122.3:c.203-131_203-129dup | ENSP00000415043.2:n.203-131_203-129dup | |
| ENST00000464325.5:n.230-147_230-145dup | ||
| ENST00000466779.5:c.293-112_293-110dup | ENSP00000417321.1:n.293-112_293-110dup | |
| ENST00000466879.5:n.213_215dup | ||
| ENST00000469053.5:c.203-112_203-110dup | ENSP00000418104.1:n.203-112_203-110dup | |
| ENST00000471671.4:c.293-131_293-129dup | ENSP00000418561.1:n.293-131_293-129dup | |
| ENST00000478281.5:c.293-98_293-96dup | ENSP00000419572.1:n.293-98_293-96dup | |
| ENST00000479074.5:n.351-131_351-129dup | ||
| ENST00000479730.5:n.448-131_448-129dup | ||
| ENST00000480027.1:n.497_499dup | ||
| ENST00000483041.5:n.443-112_443-110dup | ||
| ENST00000486063.5:n.473-131_473-129dup | ||
| ENST00000488465.1:n.301-131_301-129dup | ||
| NM_000500.7:c.293-131_293-129dup | NP_000491.4:n.293-131_293-129dup | |
| NM_001128590.3:c.203-131_203-129dup | NP_001122062.3:n.203-131_203-129dup | |
| XM_011514314.1:c.-132-112_-132-110dup | XP_011512616.1:n.-132-112_-132-110dup | |
| NM_000500.9:c.293-131_293-129dup MANE Select | NP_000491.4:n.293-131_293-129dup | |
| NM_001368143.1:c.-132-112_-132-110dup | NP_001355072.1:n.-132-112_-132-110dup | |
| NM_001368144.1:c.-132-112_-132-110dup | NP_001355073.1:n.-132-112_-132-110dup | |
| NM_001128590.4:c.203-131_203-129dup | NP_001122062.3:n.203-131_203-129dup | |
| NM_001368143.2:c.-132-112_-132-110dup | NP_001355072.1:n.-132-112_-132-110dup | |
| NM_001368144.2:c.-132-112_-132-110dup | NP_001355073.1:n.-132-112_-132-110dup |