Linked Data
dbSNP Id:
rs1042735049
gnomAD v3:
8-99013370-A-AGGGAGC
gnomAD v4:
8-99013370-A-AGGGAGC
MyVariant Identifiers:
chr8:g.100025598_100025599insGGGAGC (hg19)
chr8:g.99013370_99013371insGGGAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99013381_99013386dup , CM000670.2:g.99013381_99013386dup | GRCh38 |
| NC_000008.10:g.100025609_100025614dup , CM000670.1:g.100025609_100025614dup | GRCh37 |
| NC_000008.9:g.100094785_100094790dup | NCBI36 |
| NG_007098.2:g.5116_5121dup , LRG_351:g.5116_5121dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355155.6:c.-30+34_-30+39dup | ENSP00000347281.2:n.-30+34_-30+39dup | |
| ENST00000682145.1:n.40+34_40+39dup | ||
| ENST00000682153.1:c.-30+34_-30+39dup | ENSP00000507923.1:n.-30+34_-30+39dup | |
| ENST00000682234.1:c.-30+34_-30+39dup | ENSP00000508225.1:n.-30+34_-30+39dup | |
| ENST00000682358.1:n.41+34_41+39dup | ||
| ENST00000682806.1:n.72+34_72+39dup | ||
| ENST00000682853.1:n.76+34_76+39dup | ||
| ENST00000683334.1:c.-30+34_-30+39dup | ENSP00000507369.1:n.-30+34_-30+39dup | |
| ENST00000683486.1:n.37+34_37+39dup | ||
| ENST00000683619.1:n.74+34_74+39dup | ||
| ENST00000683869.1:n.52+34_52+39dup | ||
| ENST00000684269.1:n.72+34_72+39dup | ||
| ENST00000684308.1:n.37+34_37+39dup | ||
| ENST00000357162.7:c.-30+34_-30+39dup MANE Select | ENSP00000349685.2:n.-30+34_-30+39dup | |
| ENST00000358544.7:c.-30+34_-30+39dup MANE Plus Clinical | ENSP00000351346.2:n.-30+34_-30+39dup | |
| ENST00000355155.5:c.-30+34_-30+39dup | ENSP00000347281.1:n.-30+34_-30+39dup | |
| ENST00000357162.6:c.-30+34_-30+39dup | ENSP00000349685.2:n.-30+34_-30+39dup | |
| ENST00000358544.6:c.-30+34_-30+39dup | ENSP00000351346.2:n.-30+34_-30+39dup | |
| ENST00000441350.2:c.-30+34_-30+39dup | ENSP00000398472.2:n.-30+34_-30+39dup | |
| ENST00000496144.5:c.-30+34_-30+39dup | ENSP00000430900.1:n.-30+34_-30+39dup | |
| NM_015243.2:c.-30+34_-30+39dup , LRG_351t3:c.-30+34_-30+39dup | NP_056058.2:n.-30+34_-30+39dup | |
| NM_017890.4:c.-30+34_-30+39dup , LRG_351t1:c.-30+34_-30+39dup | NP_060360.3:n.-30+34_-30+39dup | |
| NM_152564.4:c.-30+34_-30+39dup , LRG_351t2:c.-30+34_-30+39dup | NP_689777.3:n.-30+34_-30+39dup | |
| NM_181661.2:c.-30+34_-30+39dup , LRG_351t4:c.-30+34_-30+39dup | NP_858047.2:n.-30+34_-30+39dup | |
| NR_047582.1:n.82+34_82+39dup | ||
| XM_005250800.2:c.-318_-313dup | XP_005250857.1:n.-318_-313dup | |
| XM_005250801.3:c.-30+110_-30+115dup | XP_005250858.1:n.-30+110_-30+115dup | |
| XM_006716510.2:c.-30+34_-30+39dup | XP_006716573.1:n.-30+34_-30+39dup | |
| XM_006716511.2:c.-30+34_-30+39dup | XP_006716574.1:n.-30+34_-30+39dup | |
| XM_011516848.1:c.-30+34_-30+39dup | XP_011515150.1:n.-30+34_-30+39dup | |
| XM_011516849.1:c.-30+34_-30+39dup | XP_011515151.1:n.-30+34_-30+39dup | |
| XM_011516853.1:c.-30+34_-30+39dup | XP_011515155.1:n.-30+34_-30+39dup | |
| XM_011516855.1:c.-30+34_-30+39dup | XP_011515157.1:n.-30+34_-30+39dup | |
| XM_011516856.1:c.-30+34_-30+39dup | XP_011515158.1:n.-30+34_-30+39dup | |
| XM_011516857.1:c.-30+34_-30+39dup | XP_011515159.1:n.-30+34_-30+39dup | |
| XM_011516858.1:c.-30+34_-30+39dup | XP_011515160.1:n.-30+34_-30+39dup | |
| XM_011516859.1:c.-30+34_-30+39dup | XP_011515161.1:n.-30+34_-30+39dup | |
| XM_011516860.1:c.-30+34_-30+39dup | XP_011515162.1:n.-30+34_-30+39dup | |
| XM_011516861.1:c.-30+34_-30+39dup | XP_011515163.1:n.-30+34_-30+39dup | |
| XM_011516862.1:c.-30+34_-30+39dup | XP_011515164.1:n.-30+34_-30+39dup | |
| XM_011516863.1:c.-30+34_-30+39dup | XP_011515165.1:n.-30+34_-30+39dup | |
| XM_011516864.1:c.-30+34_-30+39dup | XP_011515166.1:n.-30+34_-30+39dup | |
| XM_011516865.1:c.-30+34_-30+39dup | XP_011515167.1:n.-30+34_-30+39dup | |
| XM_011516866.1:c.-30+34_-30+39dup | XP_011515168.1:n.-30+34_-30+39dup | |
| XR_928301.1:n.74+34_74+39dup | ||
| XR_928302.1:n.74+34_74+39dup | ||
| XR_928303.1:n.74+34_74+39dup | ||
| XR_928304.1:n.74+34_74+39dup | ||
| XM_005250800.3:c.-318_-313dup | XP_005250857.1:n.-318_-313dup | |
| XM_005250801.5:c.-30+110_-30+115dup | XP_005250858.1:n.-30+110_-30+115dup | |
| XM_006716510.3:c.-30+34_-30+39dup | XP_006716573.1:n.-30+34_-30+39dup | |
| XM_011516848.2:c.-30+34_-30+39dup | XP_011515150.1:n.-30+34_-30+39dup | |
| XM_011516849.2:c.-30+34_-30+39dup | XP_011515151.1:n.-30+34_-30+39dup | |
| XM_011516853.2:c.-30+34_-30+39dup | XP_011515155.1:n.-30+34_-30+39dup | |
| XM_011516859.2:c.-30+34_-30+39dup | XP_011515161.1:n.-30+34_-30+39dup | |
| XM_011516866.2:c.-30+34_-30+39dup | XP_011515168.1:n.-30+34_-30+39dup | |
| XM_017013109.1:c.-30+34_-30+39dup | XP_016868598.1:n.-30+34_-30+39dup | |
| XM_024447074.1:c.-1357+34_-1357+39dup | XP_024302842.1:n.-1357+34_-1357+39dup | |
| XM_024447075.1:c.-30+34_-30+39dup | XP_024302843.1:n.-30+34_-30+39dup | |
| XR_001745481.1:n.74+34_74+39dup | ||
| XR_001745482.2:n.74+34_74+39dup | ||
| XR_001745484.2:n.74+34_74+39dup | ||
| XR_002956601.1:n.74+34_74+39dup | ||
| XR_002956602.1:n.74+34_74+39dup | ||
| XR_928302.2:n.74+34_74+39dup | ||
| NM_015243.3:c.-30+34_-30+39dup | NP_056058.2:n.-30+34_-30+39dup | |
| NM_017890.5:c.-30+34_-30+39dup MANE Plus Clinical | NP_060360.3:n.-30+34_-30+39dup | |
| NM_152564.5:c.-30+34_-30+39dup MANE Select | NP_689777.3:n.-30+34_-30+39dup | |
| NM_181661.3:c.-30+34_-30+39dup | NP_858047.2:n.-30+34_-30+39dup | |
| NR_047582.2:n.74+34_74+39dup |