Linked Data
ClinVar Variation Id:
292592
ClinVar RCV Id:
RCV000271355
dbSNP Id:
rs529662057
gnomAD v2:
1-151313141-A-AAAT
gnomAD v3:
1-151340665-A-AAAT
gnomAD v4:
1-151340665-A-AAAT
MyVariant Identifiers:
chr1:g.151313141_151313142insAAT (hg19)
chr1:g.151340665_151340666insAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151340665_151340666insAAT , CM000663.2:g.151340665_151340666insAAT | GRCh38 |
| NC_000001.10:g.151313141_151313142insAAT , CM000663.1:g.151313141_151313142insAAT | GRCh37 |
| NC_000001.9:g.149579765_149579766insAAT | NCBI36 |
| NG_007576.1:g.11628_11629insATT , LRG_101:g.11628_11629insATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452671.7:c.*1520_*1521insATT MANE Select | ENSP00000389130.2:n.*1520_*1521insATT | |
| ENST00000290524.8:c.*1520_*1521insATT | ENSP00000290524.4:n.*1520_*1521insATT | |
| NM_000449.3:c.*1520_*1521insATT , LRG_101t1:c.*1520_*1521insATT | NP_000440.1:n.*1520_*1521insATT | |
| NM_001025603.1:c.*1520_*1521insATT | NP_001020774.1:n.*1520_*1521insATT | |
| XM_005245405.1:c.*1520_*1521insATT | XP_005245462.1:n.*1520_*1521insATT | |
| XM_005245406.2:c.*1520_*1521insATT | XP_005245463.1:n.*1520_*1521insATT | |
| XM_011509847.1:c.*1520_*1521insATT | XP_011508149.1:n.*1520_*1521insATT | |
| XM_011509848.1:c.*1520_*1521insATT | XP_011508150.1:n.*1520_*1521insATT | |
| XM_011509849.1:c.*1520_*1521insATT | XP_011508151.1:n.*1520_*1521insATT | |
| XM_011509850.1:c.*1520_*1521insATT | XP_011508152.1:n.*1520_*1521insATT | |
| XM_005245406.3:c.*1520_*1521insATT | XP_005245463.1:n.*1520_*1521insATT | |
| XM_017001999.1:c.*1520_*1521insATT | XP_016857488.1:n.*1520_*1521insATT | |
| XM_017002000.1:c.*1520_*1521insATT | XP_016857489.1:n.*1520_*1521insATT | |
| XM_024448791.1:c.*1520_*1521insATT | XP_024304559.1:n.*1520_*1521insATT | |
| NM_001025603.2:c.*1520_*1521insATT MANE Select | NP_001020774.1:n.*1520_*1521insATT | |
| NM_000449.4:c.*1520_*1521insATT | NP_000440.1:n.*1520_*1521insATT | |
| NM_001379412.1:c.*1520_*1521insATT | NP_001366341.1:n.*1520_*1521insATT | |
| NM_001379413.1:c.*1520_*1521insATT | NP_001366342.1:n.*1520_*1521insATT | |
| NM_001379414.1:c.*1520_*1521insATT | NP_001366343.1:n.*1520_*1521insATT | |
| NM_001379415.1:c.*1520_*1521insATT | NP_001366344.1:n.*1520_*1521insATT | |
| NM_001379416.1:c.*1520_*1521insATT | NP_001366345.1:n.*1520_*1521insATT | |
| NM_001379417.1:c.*1520_*1521insATT | NP_001366346.1:n.*1520_*1521insATT | |
| NM_001379418.1:c.*1520_*1521insATT | NP_001366347.1:n.*1520_*1521insATT | |
| NM_001379419.1:c.*1520_*1521insATT | NP_001366348.1:n.*1520_*1521insATT | |
| NM_001379420.1:c.*1520_*1521insATT | NP_001366349.1:n.*1520_*1521insATT |