Linked Data
ClinVar Variation Id:
1563218
ClinVar RCV Id:
RCV002206940
dbSNP Id:
rs1428146449
gnomAD v2:
7-150644674-C-CT
gnomAD v3:
7-150947586-C-CT
gnomAD v4:
7-150947586-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947586_150947587insT , CM000669.2:g.150947586_150947587insT | GRCh38 |
| NC_000007.13:g.150644674_150644675insT , CM000669.1:g.150644674_150644675insT | GRCh37 |
| NC_000007.12:g.150275607_150275608insT | NCBI36 |
| NG_008916.1:g.35340_35341insA , LRG_288:g.35340_35341insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3798+19_3798+20insA | ||
| ENST00000262186.10:c.2965+19_2965+20insA MANE Select | ENSP00000262186.5:n.2965+19_2965+20insA | |
| ENST00000330883.9:c.1945+19_1945+20insA | ENSP00000328531.4:n.1945+19_1945+20insA | |
| ENST00000262186.9:c.2965+19_2965+20insA | ENSP00000262186.5:n.2965+19_2965+20insA | |
| ENST00000330883.8:c.1945+19_1945+20insA | ENSP00000328531.4:n.1945+19_1945+20insA | |
| NM_000238.3:c.2965+19_2965+20insA , LRG_288t1:c.2965+19_2965+20insA | NP_000229.1:n.2965+19_2965+20insA | |
| NM_172057.2:c.1945+19_1945+20insA , LRG_288t3:c.1945+19_1945+20insA | NP_742054.1:n.1945+19_1945+20insA | |
| XM_011516185.1:c.2665+19_2665+20insA | XP_011514487.1:n.2665+19_2665+20insA | |
| XM_011516186.1:c.*45+19_*45+20insA | XP_011514488.1:n.*45+19_*45+20insA | |
| XM_011516185.2:c.2665+19_2665+20insA | XP_011514487.1:n.2665+19_2665+20insA | |
| XM_011516186.3:c.*45+19_*45+20insA | XP_011514488.1:n.*45+19_*45+20insA | |
| XM_017012195.1:c.2815+19_2815+20insA | XP_016867684.1:n.2815+19_2815+20insA | |
| XM_017012196.1:c.2788+19_2788+20insA | XP_016867685.1:n.2788+19_2788+20insA | |
| NM_000238.4:c.2965+19_2965+20insA MANE Select | NP_000229.1:n.2965+19_2965+20insA | |
| NM_172057.3:c.1945+19_1945+20insA | NP_742054.1:n.1945+19_1945+20insA |