Linked Data
dbSNP Id:
rs1280816549
gnomAD v3:
6-32038965-C-CAGGT
gnomAD v4:
6-32038965-C-CAGGT
MyVariant Identifiers:
chr6:g.32006742_32006743insAGGT (hg19)
chr6:g.32038965_32038966insAGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038966_32038969dup , CM000668.2:g.32038966_32038969dup | GRCh38 |
| NC_000006.11:g.32006743_32006746dup , CM000668.1:g.32006743_32006746dup | GRCh37 |
| NC_000006.10:g.32114722_32114725dup | NCBI36 |
| NG_007941.2:g.5659_5662dup | |
| NG_007941.3:g.5662_5665dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.293-128_293-125dup MANE Select | ENSP00000496625.1:n.293-128_293-125dup | |
| ENST00000418967.6:c.293-128_293-125dup | ENSP00000408860.2:n.293-128_293-125dup | |
| ENST00000435122.3:c.203-128_203-125dup | ENSP00000415043.2:n.203-128_203-125dup | |
| ENST00000464325.5:n.230-144_230-141dup | ||
| ENST00000466779.5:c.293-109_293-106dup | ENSP00000417321.1:n.293-109_293-106dup | |
| ENST00000466879.5:n.216_219dup | ||
| ENST00000469053.5:c.203-109_203-106dup | ENSP00000418104.1:n.203-109_203-106dup | |
| ENST00000471671.4:c.293-128_293-125dup | ENSP00000418561.1:n.293-128_293-125dup | |
| ENST00000478281.5:c.293-95_293-92dup | ENSP00000419572.1:n.293-95_293-92dup | |
| ENST00000479074.5:n.351-128_351-125dup | ||
| ENST00000479730.5:n.448-128_448-125dup | ||
| ENST00000480027.1:n.500_503dup | ||
| ENST00000483041.5:n.443-109_443-106dup | ||
| ENST00000486063.5:n.473-128_473-125dup | ||
| ENST00000488465.1:n.301-128_301-125dup | ||
| NM_000500.7:c.293-128_293-125dup | NP_000491.4:n.293-128_293-125dup | |
| NM_001128590.3:c.203-128_203-125dup | NP_001122062.3:n.203-128_203-125dup | |
| XM_011514314.1:c.-132-109_-132-106dup | XP_011512616.1:n.-132-109_-132-106dup | |
| NM_000500.9:c.293-128_293-125dup MANE Select | NP_000491.4:n.293-128_293-125dup | |
| NM_001368143.1:c.-132-109_-132-106dup | NP_001355072.1:n.-132-109_-132-106dup | |
| NM_001368144.1:c.-132-109_-132-106dup | NP_001355073.1:n.-132-109_-132-106dup | |
| NM_001128590.4:c.203-128_203-125dup | NP_001122062.3:n.203-128_203-125dup | |
| NM_001368143.2:c.-132-109_-132-106dup | NP_001355072.1:n.-132-109_-132-106dup | |
| NM_001368144.2:c.-132-109_-132-106dup | NP_001355073.1:n.-132-109_-132-106dup |