Linked Data
gnomAD v2:
2-215593278-A-ATTTTTT
gnomAD v3:
2-214728554-A-ATTTTTT
gnomAD v4:
2-214728554-A-ATTTTTT
MyVariant Identifiers:
chr2:g.215593278_215593279insTTTTTT (hg19)
chr2:g.214728554_214728555insTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728556_214728557insTTTTTT , CM000664.2:g.214728556_214728557insTTTTTT | GRCh38 |
| NC_000002.11:g.215593280_215593281insTTTTTT , CM000664.1:g.215593280_215593281insTTTTTT | GRCh37 |
| NC_000002.10:g.215301525_215301526insTTTTTT | NCBI36 |
| NG_012047.2:g.86150_86151insAAAAAA | |
| NG_012047.3:g.86157_86158insAAAAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.*121_*122insAAAAAA MANE Select | ENSP00000260947.4:n.*121_*122insAAAAAA | |
| ENST00000617164.5:c.*121_*122insAAAAAA | ENSP00000480470.1:n.*121_*122insAAAAAA | |
| ENST00000619009.5:c.*121_*122insAAAAAA | ENSP00000482293.1:n.*121_*122insAAAAAA | |
| ENST00000260947.8:c.*121_*122insAAAAAA | ENSP00000260947.4:n.*121_*122insAAAAAA | |
| ENST00000432456.5:c.598_599insAAAAAA | ||
| ENST00000471590.5:n.790_791insAAAAAA | ||
| ENST00000613374.4:c.*121_*122insAAAAAA | ENSP00000484464.1:n.*121_*122insAAAAAA | |
| ENST00000613706.4:c.*121_*122insAAAAAA | ENSP00000484976.1:n.*121_*122insAAAAAA | |
| ENST00000617164.4:c.*121_*122insAAAAAA | ENSP00000480470.1:n.*121_*122insAAAAAA | |
| ENST00000619009.4:c.*121_*122insAAAAAA | ENSP00000482293.1:n.*121_*122insAAAAAA | |
| NM_000465.3:c.*121_*122insAAAAAA | NP_000456.2:n.*121_*122insAAAAAA | |
| NM_001282543.1:c.*121_*122insAAAAAA | NP_001269472.1:n.*121_*122insAAAAAA | |
| NM_001282545.1:c.*121_*122insAAAAAA | NP_001269474.1:n.*121_*122insAAAAAA | |
| NM_001282548.1:c.*121_*122insAAAAAA | NP_001269477.1:n.*121_*122insAAAAAA | |
| NM_001282549.1:c.*121_*122insAAAAAA | NP_001269478.1:n.*121_*122insAAAAAA | |
| NR_104212.1:n.2448_2449insAAAAAA | ||
| NR_104215.1:n.2391_2392insAAAAAA | ||
| NR_104216.1:n.1647_1648insAAAAAA | ||
| XM_011511567.1:c.*121_*122insAAAAAA | XP_011509869.1:n.*121_*122insAAAAAA | |
| XM_017004613.1:c.*121_*122insAAAAAA | XP_016860102.1:n.*121_*122insAAAAAA | |
| XR_002959322.1:n.2821_2822insAAAAAA | ||
| NM_000465.4:c.*121_*122insAAAAAA MANE Select | NP_000456.2:n.*121_*122insAAAAAA | |
| NM_001282543.2:c.*121_*122insAAAAAA | NP_001269472.1:n.*121_*122insAAAAAA | |
| NM_001282545.2:c.*121_*122insAAAAAA | NP_001269474.1:n.*121_*122insAAAAAA | |
| NM_001282548.2:c.*121_*122insAAAAAA | NP_001269477.1:n.*121_*122insAAAAAA | |
| NM_001282549.2:c.*121_*122insAAAAAA | NP_001269478.1:n.*121_*122insAAAAAA | |
| NR_104212.2:n.2420_2421insAAAAAA | ||
| NR_104215.2:n.2363_2364insAAAAAA | ||
| NR_104216.2:n.1619_1620insAAAAAA |