Linked Data
dbSNP Id:
rs1353677390
MyVariant Identifiers:
chr8:g.100880761_100880762insCGAA (hg19)
chr8:g.99868533_99868534insCGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868534_99868535insGAAC , CM000670.2:g.99868534_99868535insGAAC | GRCh38 |
| NC_000008.10:g.100880762_100880763insGAAC , CM000670.1:g.100880762_100880763insGAAC | GRCh37 |
| NC_000008.9:g.100949938_100949939insGAAC | NCBI36 |
| NG_007098.2:g.860269_860270insGAAC , LRG_351:g.860269_860270insGAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*561+69_*561+70insGAAC | ENSP00000507923.1:n.*561+69_*561+70insGAAC | |
| ENST00000682358.1:n.11537+69_11537+70insGAAC | ||
| ENST00000683334.1:c.*7149+69_*7149+70insGAAC | ENSP00000507369.1:n.*7149+69_*7149+70insGAAC | |
| ENST00000357162.7:c.11392+69_11392+70insGAAC MANE Select | ENSP00000349685.2:n.11392+69_11392+70insGAAC | |
| ENST00000358544.7:c.11467+69_11467+70insGAAC MANE Plus Clinical | ENSP00000351346.2:n.11467+69_11467+70insGAAC | |
| ENST00000357162.6:c.11392+69_11392+70insGAAC | ENSP00000349685.2:n.11392+69_11392+70insGAAC | |
| ENST00000358544.6:c.11467+69_11467+70insGAAC | ENSP00000351346.2:n.11467+69_11467+70insGAAC | |
| ENST00000493587.1:n.409+69_409+70insGAAC | ||
| NM_017890.4:c.11467+69_11467+70insGAAC , LRG_351t1:c.11467+69_11467+70insGAAC | NP_060360.3:n.11467+69_11467+70insGAAC | |
| NM_152564.4:c.11392+69_11392+70insGAAC , LRG_351t2:c.11392+69_11392+70insGAAC | NP_689777.3:n.11392+69_11392+70insGAAC | |
| XM_005250800.2:c.11467+69_11467+70insGAAC | XP_005250857.1:n.11467+69_11467+70insGAAC | |
| XM_005250801.3:c.11467+69_11467+70insGAAC | XP_005250858.1:n.11467+69_11467+70insGAAC | |
| XM_011516848.1:c.11464+69_11464+70insGAAC | XP_011515150.1:n.11464+69_11464+70insGAAC | |
| XM_011516849.1:c.11389+69_11389+70insGAAC | XP_011515151.1:n.11389+69_11389+70insGAAC | |
| XM_011516850.1:c.11089+69_11089+70insGAAC | XP_011515152.1:n.11089+69_11089+70insGAAC | |
| XM_011516851.1:c.8353+69_8353+70insGAAC | XP_011515153.1:n.8353+69_8353+70insGAAC | |
| XM_011516852.1:c.8353+69_8353+70insGAAC | XP_011515154.1:n.8353+69_8353+70insGAAC | |
| XM_011516854.1:c.7246+69_7246+70insGAAC | XP_011515156.1:n.7246+69_7246+70insGAAC | |
| XM_005250800.3:c.11467+69_11467+70insGAAC | XP_005250857.1:n.11467+69_11467+70insGAAC | |
| XM_005250801.5:c.11467+69_11467+70insGAAC | XP_005250858.1:n.11467+69_11467+70insGAAC | |
| XM_011516848.2:c.11464+69_11464+70insGAAC | XP_011515150.1:n.11464+69_11464+70insGAAC | |
| XM_011516849.2:c.11389+69_11389+70insGAAC | XP_011515151.1:n.11389+69_11389+70insGAAC | |
| XM_011516850.2:c.11089+69_11089+70insGAAC | XP_011515152.1:n.11089+69_11089+70insGAAC | |
| XM_011516851.2:c.8353+69_8353+70insGAAC | XP_011515153.1:n.8353+69_8353+70insGAAC | |
| XM_011516852.2:c.8353+69_8353+70insGAAC | XP_011515154.1:n.8353+69_8353+70insGAAC | |
| XM_011516854.2:c.7246+69_7246+70insGAAC | XP_011515156.1:n.7246+69_7246+70insGAAC | |
| XM_017013109.1:c.11272+69_11272+70insGAAC | XP_016868598.1:n.11272+69_11272+70insGAAC | |
| XM_017013111.1:c.8353+69_8353+70insGAAC | XP_016868600.1:n.8353+69_8353+70insGAAC | |
| XM_017013112.1:c.7024+69_7024+70insGAAC | XP_016868601.1:n.7024+69_7024+70insGAAC | |
| XM_024447074.1:c.10252+69_10252+70insGAAC | XP_024302842.1:n.10252+69_10252+70insGAAC | |
| NM_017890.5:c.11467+69_11467+70insGAAC MANE Plus Clinical | NP_060360.3:n.11467+69_11467+70insGAAC | |
| NM_152564.5:c.11392+69_11392+70insGAAC MANE Select | NP_689777.3:n.11392+69_11392+70insGAAC |