Linked Data
ClinVar Variation Id:
1996996
ClinVar RCV Id:
RCV002807178
gnomAD v4:
12-49042570-AGGAACGGGGACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49042573_49042584del , CM000674.2:g.49042573_49042584del | GRCh38 |
| NC_000012.11:g.49436356_49436367del , CM000674.1:g.49436356_49436367del | GRCh37 |
| NC_000012.10:g.47722623_47722634del | NCBI36 |
| NG_027827.1:g.17743_17754del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650290.2:c.658_669del | ||
| ENST00000683543.2:c.5846_5857del | ENSP00000506726.1:p.Gln1949_Phe1952del | |
| ENST00000685166.1:c.5855_5866del | ENSP00000509386.1:p.Gln1952_Phe1955del | |
| ENST00000688095.1:c.1795_1806del | ENSP00000510007.1:n.1795_1806del | |
| ENST00000692637.1:c.5843_5854del | ENSP00000509666.1:p.Gln1948_Phe1951del | |
| ENST00000301067.12:c.5846_5857del MANE Select | ENSP00000301067.7:p.Gln1949_Phe1952del | |
| ENST00000301067.11:c.5846_5857del | ENSP00000301067.7:p.Gln1949_Phe1952del | |
| NM_003482.3:c.5846_5857del | NP_003473.3:p.Gln1949_Phe1952del | |
| XM_005269162.3:c.5846_5857del | XP_005269219.1:p.Gln1949_Phe1952del | |
| XM_006719614.2:c.5855_5866del | XP_006719677.1:p.Gln1952_Phe1955del | |
| XM_006719616.2:c.5843_5854del | XP_006719679.1:p.Gln1948_Phe1951del | |
| XM_011538770.1:c.5855_5866del | XP_011537072.1:p.Gln1952_Phe1955del | |
| XM_011538771.1:c.5852_5863del | XP_011537073.1:p.Gln1951_Phe1954del | |
| XM_011538772.1:c.5846_5857del | XP_011537074.1:p.Gln1949_Phe1952del | |
| XM_011538773.1:c.5843_5854del | XP_011537075.1:p.Gln1948_Phe1951del | |
| XM_011538774.1:c.5855_5866del | XP_011537076.1:p.Gln1952_Phe1955del | |
| XM_011538775.1:c.5855_5866del | XP_011537077.1:p.Gln1952_Phe1955del | |
| XM_011538776.1:c.5855_5866del | XP_011537078.1:p.Gln1952_Phe1955del | |
| XR_944740.1:n.8175_8186del | ||
| XM_005269162.4:c.5846_5857del | XP_005269219.1:p.Gln1949_Phe1952del | |
| XM_006719614.4:c.5855_5866del | XP_006719677.1:p.Gln1952_Phe1955del | |
| XM_006719616.3:c.5843_5854del | XP_006719679.1:p.Gln1948_Phe1951del | |
| XM_011538770.2:c.5855_5866del | XP_011537072.1:p.Gln1952_Phe1955del | |
| XM_011538771.2:c.5852_5863del | XP_011537073.1:p.Gln1951_Phe1954del | |
| XM_011538772.2:c.5846_5857del | XP_011537074.1:p.Gln1949_Phe1952del | |
| XM_011538773.2:c.5843_5854del | XP_011537075.1:p.Gln1948_Phe1951del | |
| XM_011538774.2:c.5855_5866del | XP_011537076.1:p.Gln1952_Phe1955del | |
| XM_011538776.2:c.5855_5866del | XP_011537078.1:p.Gln1952_Phe1955del | |
| XR_001748874.1:n.7164_7175del | ||
| NM_003482.4:c.5846_5857del MANE Select | NP_003473.3:p.Gln1949_Phe1952del |