Linked Data
dbSNP Id:
rs1562755827
gnomAD v2:
6-32006761-G-GC
gnomAD v3:
6-32038984-G-GC
gnomAD v4:
6-32038984-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038984_32038985insC , CM000668.2:g.32038984_32038985insC | GRCh38 |
| NC_000006.11:g.32006761_32006762insC , CM000668.1:g.32006761_32006762insC | GRCh37 |
| NC_000006.10:g.32114740_32114741insC | NCBI36 |
| NG_007941.2:g.5677_5678insC | |
| NG_007941.3:g.5680_5681insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.293-110_293-109insC MANE Select | ENSP00000496625.1:n.293-110_293-109insC | |
| ENST00000418967.6:c.293-110_293-109insC | ENSP00000408860.2:n.293-110_293-109insC | |
| ENST00000435122.3:c.203-110_203-109insC | ENSP00000415043.2:n.203-110_203-109insC | |
| ENST00000464325.5:n.230-126_230-125insC | ||
| ENST00000466779.5:c.293-91_293-90insC | ENSP00000417321.1:n.293-91_293-90insC | |
| ENST00000466879.5:n.234_235insC | ||
| ENST00000469053.5:c.203-91_203-90insC | ENSP00000418104.1:n.203-91_203-90insC | |
| ENST00000471671.4:c.293-110_293-109insC | ENSP00000418561.1:n.293-110_293-109insC | |
| ENST00000478281.5:c.293-77_293-76insC | ENSP00000419572.1:n.293-77_293-76insC | |
| ENST00000479074.5:n.351-110_351-109insC | ||
| ENST00000479730.5:n.448-110_448-109insC | ||
| ENST00000480027.1:n.518_519insC | ||
| ENST00000483041.5:n.443-91_443-90insC | ||
| ENST00000486063.5:n.473-110_473-109insC | ||
| ENST00000488465.1:n.301-110_301-109insC | ||
| NM_000500.7:c.293-110_293-109insC | NP_000491.4:n.293-110_293-109insC | |
| NM_001128590.3:c.203-110_203-109insC | NP_001122062.3:n.203-110_203-109insC | |
| XM_011514314.1:c.-132-91_-132-90insC | XP_011512616.1:n.-132-91_-132-90insC | |
| NM_000500.9:c.293-110_293-109insC MANE Select | NP_000491.4:n.293-110_293-109insC | |
| NM_001368143.1:c.-132-91_-132-90insC | NP_001355072.1:n.-132-91_-132-90insC | |
| NM_001368144.1:c.-132-91_-132-90insC | NP_001355073.1:n.-132-91_-132-90insC | |
| NM_001128590.4:c.203-110_203-109insC | NP_001122062.3:n.203-110_203-109insC | |
| NM_001368143.2:c.-132-91_-132-90insC | NP_001355072.1:n.-132-91_-132-90insC | |
| NM_001368144.2:c.-132-91_-132-90insC | NP_001355073.1:n.-132-91_-132-90insC |