Linked Data
dbSNP Id:
rs1554305377
gnomAD v2:
6-32007679-CTA-C
gnomAD v3:
6-32039902-CTA-C
gnomAD v4:
6-32039902-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039904_32039905del , CM000668.2:g.32039904_32039905del | GRCh38 |
| NC_000006.11:g.32007681_32007682del , CM000668.1:g.32007681_32007682del | GRCh37 |
| NC_000006.10:g.32115660_32115661del | NCBI36 |
| NG_007941.2:g.6597_6598del | |
| NG_008337.2:g.74471_74472del | |
| NG_007941.3:g.6600_6601del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.738+69_738+70del MANE Select | ENSP00000496625.1:n.738+69_738+70del | |
| ENST00000418967.6:c.738+69_738+70del | ENSP00000408860.2:n.738+69_738+70del | |
| ENST00000435122.3:c.648+69_648+70del | ENSP00000415043.2:n.648+69_648+70del | |
| ENST00000462278.1:n.496_497del | ||
| ENST00000479074.5:n.796+69_796+70del | ||
| ENST00000479730.5:n.854+69_854+70del | ||
| ENST00000483041.5:n.907+69_907+70del | ||
| ENST00000486063.5:n.918+69_918+70del | ||
| NM_000500.7:c.738+69_738+70del | NP_000491.4:n.738+69_738+70del | |
| NM_001128590.3:c.648+69_648+70del | NP_001122062.3:n.648+69_648+70del | |
| XM_011514314.1:c.333+69_333+70del | XP_011512616.1:n.333+69_333+70del | |
| NM_000500.9:c.738+69_738+70del MANE Select | NP_000491.4:n.738+69_738+70del | |
| NM_001368143.1:c.333+69_333+70del | NP_001355072.1:n.333+69_333+70del | |
| NM_001368144.1:c.333+69_333+70del | NP_001355073.1:n.333+69_333+70del | |
| NM_001128590.4:c.648+69_648+70del | NP_001122062.3:n.648+69_648+70del | |
| NM_001368143.2:c.333+69_333+70del | NP_001355072.1:n.333+69_333+70del | |
| NM_001368144.2:c.333+69_333+70del | NP_001355073.1:n.333+69_333+70del |