Linked Data
dbSNP Id:
rs1423309932
gnomAD v2:
2-220285389-T-TGACCCAGGCAGCCAACAAGAACAACGA
gnomAD v4:
2-219420667-T-TGACCCAGGCAGCCAACAAGAACAACGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420667_219420668insGACCCAGGCAGCCAACAAGAACAACGA , CM000664.2:g.219420667_219420668insGACCCAGGCAGCCAACAAGAACAACGA | GRCh38 |
| NC_000002.11:g.220285389_220285390insGACCCAGGCAGCCAACAAGAACAACGA , CM000664.1:g.220285389_220285390insGACCCAGGCAGCCAACAAGAACAACGA | GRCh37 |
| NC_000002.10:g.219993633_219993634insGACCCAGGCAGCCAACAAGAACAACGA | NCBI36 |
| NG_008043.1:g.7291_7292insGACCCAGGCAGCCAACAAGAACAACGA , LRG_380:g.7291_7292insGACCCAGGCAGCCAACAAGAACAACGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.371+11_371+12insGACCCAGGCAGCCAACAAGAACAACGA | ||
| ENST00000683013.1:n.285+11_285+12insGACCCAGGCAGCCAACAAGAACAACGA | ||
| ENST00000373960.4:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA MANE Select | ENSP00000363071.3:n.897+11_897+12insGACCCAGGCAGCCAACAAGAACAAC... | |
| ENST00000373960.3:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | ENSP00000363071.3:n.897+11_897+12insGACCCAGGCAGCCAACAAGAACAAC... | |
| ENST00000477226.5:n.369+11_369+12insGACCCAGGCAGCCAACAAGAACAACGA | ||
| ENST00000492726.1:n.292+11_292+12insGACCCAGGCAGCCAACAAGAACAACGA | ||
| NM_001927.3:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA , LRG_380t1:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | NP_001918.3:n.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | |
| NM_001927.4:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA MANE Select | NP_001918.3:n.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | |
| NM_001382708.1:c.894+11_894+12insGACCCAGGCAGCCAACAAGAACAACGA | NP_001369637.1:n.894+11_894+12insGACCCAGGCAGCCAACAAGAACAACGA | |
| NM_001382709.1:c.735+321_735+322insGACCCAGGCAGCCAACAAGAACAACGA | NP_001369638.1:n.735+321_735+322insGACCCAGGCAGCCAACAAGAACAACG... | |
| NM_001382710.1:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | NP_001369639.1:n.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | |
| NM_001382711.1:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | NP_001369640.1:n.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | |
| NM_001382712.1:c.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | NP_001369641.1:n.897+11_897+12insGACCCAGGCAGCCAACAAGAACAACGA | |
| NM_001382713.1:c.627+11_627+12insGACCCAGGCAGCCAACAAGAACAACGA | NP_001369642.1:n.627+11_627+12insGACCCAGGCAGCCAACAAGAACAACGA |