Linked Data
ClinVar Variation Id:
1055231
ClinVar RCV Id:
RCV001363870
dbSNP Id:
rs1267983821
gnomAD v2:
11-68704407-G-GGGAGCAGCGTGGCCC
gnomAD v3:
11-68936939-G-GGGAGCAGCGTGGCCC
gnomAD v4:
11-68936939-G-GGGAGCAGCGTGGCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936940_68936954dup , CM000673.2:g.68936940_68936954dup | GRCh38 |
| NC_000011.9:g.68704408_68704422dup , CM000673.1:g.68704408_68704422dup | GRCh37 |
| NC_000011.8:g.68460984_68460998dup | NCBI36 |
| NG_007976.1:g.38090_38104dup , LRG_250:g.38090_38104dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2460_2474dup MANE Select | ENSP00000255078.4:p.Pro825_Asp826insGluGlnArgGlyPro | |
| ENST00000674675.1:c.605_619dup | ||
| ENST00000674878.1:c.565_579dup | ||
| ENST00000675118.1:c.1948_1962dup | ||
| ENST00000675389.1:n.735_749dup | ||
| ENST00000675615.1:c.2460_2474dup | ENSP00000502413.1:p.Pro825_Asp826insGluGlnArgGlyPro | |
| ENST00000675648.1:n.1835_1849dup | ||
| ENST00000675916.1:c.704_718dup | ||
| ENST00000676173.1:n.3205_3219dup | ||
| ENST00000676182.1:c.891_905dup | ||
| ENST00000676228.1:c.*1783_*1797dup | ENSP00000502375.1:n.*1783_*1797dup | |
| ENST00000255078.7:c.2460_2474dup | ENSP00000255078.3:p.Pro825_Asp826insGluGlnArgGlyPro | |
| ENST00000539064.5:n.2219_2233dup | ||
| ENST00000543739.5:n.1453_1467dup | ||
| NM_002180.2:c.2460_2474dup , LRG_250t1:c.2460_2474dup | NP_002171.2:p.Pro825_Asp826insGluGlnArgGlyPro | |
| XM_005273974.2:c.1449_1463dup | XP_005274031.1:p.Pro488_Asp489insGluGlnArgGlyPro | |
| XM_005273975.2:c.1332_1346dup | XP_005274032.1:p.Pro449_Asp450insGluGlnArgGlyPro | |
| XM_011544994.1:c.1227_1241dup | XP_011543296.1:p.Pro414_Asp415insGluGlnArgGlyPro | |
| XR_949903.1:n.2562_2576dup | ||
| XM_005273975.3:c.1332_1346dup | XP_005274032.1:p.Pro449_Asp450insGluGlnArgGlyPro | |
| XM_017017669.2:c.1449_1463dup | XP_016873158.1:p.Pro488_Asp489insGluGlnArgGlyPro | |
| XM_017017670.2:c.1449_1463dup | XP_016873159.1:p.Pro488_Asp489insGluGlnArgGlyPro | |
| XR_949903.3:n.2558_2572dup | ||
| NM_002180.3:c.2460_2474dup MANE Select | NP_002171.2:p.Pro825_Asp826insGluGlnArgGlyPro |