Linked Data
dbSNP Id:
rs763943264
gnomAD v2:
2-145147394-G-GCTTCCCGCTCCTCCGCCT
gnomAD v4:
2-144389827-G-GCTTCCCGCTCCTCCGCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389829_144389846dup , CM000664.2:g.144389829_144389846dup | GRCh38 |
| NC_000002.11:g.145147396_145147413dup , CM000664.1:g.145147396_145147413dup | GRCh37 |
| NC_000002.10:g.144863866_144863883dup | NCBI36 |
| NG_016431.1:g.135547_135564dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3100_*3117dup | ENSP00000508434.1:n.*3100_*3117dup | |
| ENST00000440875.6:c.2474_2491dup | ENSP00000475553.3:p.Glu830_Ala831insGluAlaGluGluArgGlu | |
| ENST00000627532.3:c.3251_3268dup MANE Select | ENSP00000487174.1:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| ENST00000636026.2:c.3230+21_3230+38dup | ENSP00000490776.1:n.3230+21_3230+38dup | |
| ENST00000636179.1:n.3220_3237dup | ||
| ENST00000636413.1:c.2915_2932dup | ENSP00000490508.1:p.Glu977_Ala978insGluAlaGluGluArgGlu | |
| ENST00000636471.1:c.3326_3343dup | ENSP00000490317.1:p.Glu1114_Ala1115insGluAlaGluGluArgGlu | |
| ENST00000636732.2:c.*2968_*2985dup | ENSP00000490175.1:n.*2968_*2985dup | |
| ENST00000636820.1:n.3351_3368dup | ||
| ENST00000637045.1:c.2915_2932dup | ENSP00000490141.1:p.Glu977_Ala978insGluAlaGluGluArgGlu | |
| ENST00000637304.1:c.2915_2932dup | ENSP00000490872.1:p.Glu977_Ala978insGluAlaGluGluArgGlu | |
| ENST00000638007.1:c.2915_2932dup | ENSP00000490723.1:p.Glu977_Ala978insGluAlaGluGluArgGlu | |
| ENST00000638087.1:c.2915_2932dup | ENSP00000490673.1:p.Glu977_Ala978insGluAlaGluGluArgGlu | |
| ENST00000638128.1:c.2474_2491dup | ENSP00000490934.1:p.Glu830_Ala831insGluAlaGluGluArgGlu | |
| ENST00000639389.1:c.151+6567_151+6584dup | ENSP00000492572.1:n.151+6567_151+6584dup | |
| ENST00000647488.1:c.471_488dup | ENSP00000494820.1:n.471_488dup | |
| ENST00000675069.1:c.782_799dup | ENSP00000502467.1:p.Glu266_Ala267insGluAlaGluGluArgGlu | |
| ENST00000303660.8:c.3248_3265dup | ENSP00000302501.4:p.Glu1088_Ala1089insGluAlaGluGluArgGlu | |
| ENST00000409487.7:c.3251_3268dup | ENSP00000386854.2:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| ENST00000419938.5:c.656-963_656-946dup | ENSP00000394777.2:n.656-963_656-946dup | |
| ENST00000539609.7:c.3179_3196dup | ENSP00000443792.2:p.Glu1065_Ala1066insGluAlaGluGluArgGlu | |
| ENST00000558170.6:c.3251_3268dup | ENSP00000454157.1:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| ENST00000627532.2:c.3251_3268dup | ENSP00000487174.1:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| NM_001171653.1:c.3179_3196dup | NP_001165124.1:p.Glu1065_Ala1066insGluAlaGluGluArgGlu | |
| NM_014795.3:c.3251_3268dup | NP_055610.1:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| XM_006712881.2:c.3251_3268dup | XP_006712944.1:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| XM_006712882.2:c.3251_3268dup | XP_006712945.1:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| XM_011512231.1:c.3242_3259dup | XP_011510533.1:p.Glu1086_Ala1087insGluAlaGluGluArgGlu | |
| XM_011512232.1:c.3230_3247dup | XP_011510534.1:p.Glu1082_Ala1083insGluAlaGluGluArgGlu | |
| NM_014795.4:c.3251_3268dup MANE Select | NP_055610.1:p.Glu1089_Ala1090insGluAlaGluGluArgGlu | |
| NM_001171653.2:c.3179_3196dup | NP_001165124.1:p.Glu1065_Ala1066insGluAlaGluGluArgGlu |