Linked Data
dbSNP Id:
rs576031977
ExAC:
6:32006438 AG / A
gnomAD v2:
6-32006438-AG-A
gnomAD v3:
6-32038661-AG-A
gnomAD v4:
6-32038661-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038666del , CM000668.2:g.32038666del | GRCh38 |
| NC_000006.11:g.32006443del , CM000668.1:g.32006443del | GRCh37 |
| NC_000006.10:g.32114422del | NCBI36 |
| NG_007941.2:g.5359del | |
| NG_007941.3:g.5362del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.202+42del MANE Select | ENSP00000496625.1:n.202+42del | |
| ENST00000418967.6:c.202+42del | ENSP00000408860.2:n.202+42del | |
| ENST00000435122.3:c.202+42del | ENSP00000415043.2:n.202+42del | |
| ENST00000464325.5:n.84del | ||
| ENST00000466779.5:c.202+42del | ENSP00000417321.1:n.202+42del | |
| ENST00000469053.5:c.202+42del | ENSP00000418104.1:n.202+42del | |
| ENST00000471671.4:c.202+42del | ENSP00000418561.1:n.202+42del | |
| ENST00000478281.5:c.202+42del | ENSP00000419572.1:n.202+42del | |
| ENST00000479074.5:n.260+42del | ||
| ENST00000479730.5:n.302del | ||
| ENST00000480027.1:n.255+42del | ||
| ENST00000483041.5:n.297del | ||
| ENST00000486063.5:n.327del | ||
| ENST00000488465.1:n.210+42del | ||
| NM_000500.7:c.202+42del | NP_000491.4:n.202+42del | |
| NM_001128590.3:c.202+42del | NP_001122062.3:n.202+42del | |
| XM_011514314.1:c.-223+42del | XP_011512616.1:n.-223+42del | |
| NM_000500.9:c.202+42del MANE Select | NP_000491.4:n.202+42del | |
| NM_001368143.1:c.-223+42del | NP_001355072.1:n.-223+42del | |
| NM_001368144.1:c.-133+42del | NP_001355073.1:n.-133+42del | |
| NM_001128590.4:c.202+42del | NP_001122062.3:n.202+42del | |
| NM_001368143.2:c.-223+42del | NP_001355072.1:n.-223+42del | |
| NM_001368144.2:c.-133+42del | NP_001355073.1:n.-133+42del |