Linked Data
dbSNP Id:
rs369651496
gnomAD v2:
6-32006760-TG-T
gnomAD v3:
6-32038983-TG-T
gnomAD v4:
6-32038983-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038990del , CM000668.2:g.32038990del | GRCh38 |
| NC_000006.11:g.32006767del , CM000668.1:g.32006767del | GRCh37 |
| NC_000006.10:g.32114746del | NCBI36 |
| NG_007941.2:g.5683del | |
| NG_007941.3:g.5686del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.293-104del MANE Select | ENSP00000496625.1:n.293-104del | |
| ENST00000418967.6:c.293-104del | ENSP00000408860.2:n.293-104del | |
| ENST00000435122.3:c.203-104del | ENSP00000415043.2:n.203-104del | |
| ENST00000464325.5:n.230-120del | ||
| ENST00000466779.5:c.293-85del | ENSP00000417321.1:n.293-85del | |
| ENST00000466879.5:n.240del | ||
| ENST00000469053.5:c.203-85del | ENSP00000418104.1:n.203-85del | |
| ENST00000471671.4:c.293-104del | ENSP00000418561.1:n.293-104del | |
| ENST00000478281.5:c.293-71del | ENSP00000419572.1:n.293-71del | |
| ENST00000479074.5:n.351-104del | ||
| ENST00000479730.5:n.448-104del | ||
| ENST00000480027.1:n.524del | ||
| ENST00000483041.5:n.443-85del | ||
| ENST00000486063.5:n.473-104del | ||
| ENST00000488465.1:n.301-104del | ||
| NM_000500.7:c.293-104del | NP_000491.4:n.293-104del | |
| NM_001128590.3:c.203-104del | NP_001122062.3:n.203-104del | |
| XM_011514314.1:c.-132-85del | XP_011512616.1:n.-132-85del | |
| NM_000500.9:c.293-104del MANE Select | NP_000491.4:n.293-104del | |
| NM_001368143.1:c.-132-85del | NP_001355072.1:n.-132-85del | |
| NM_001368144.1:c.-132-85del | NP_001355073.1:n.-132-85del | |
| NM_001128590.4:c.203-104del | NP_001122062.3:n.203-104del | |
| NM_001368143.2:c.-132-85del | NP_001355072.1:n.-132-85del | |
| NM_001368144.2:c.-132-85del | NP_001355073.1:n.-132-85del |