Linked Data
dbSNP Id:
rs1695046436
gnomAD v3:
2-216475274-G-GCAGCACGTT
gnomAD v4:
2-216475274-G-GCAGCACGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216475280_216475281insGTTCAGCAC , CM000664.2:g.216475280_216475281insGTTCAGCAC | GRCh38 |
| NC_000002.11:g.217340003_217340004insGTTCAGCAC , CM000664.1:g.217340003_217340004insGTTCAGCAC | GRCh37 |
| NC_000002.10:g.217048248_217048249insGTTCAGCAC | NCBI36 |
| NG_009771.1:g.67867_67868insGTTCAGCAC , LRG_108:g.67867_67868insGTTCAGCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.2256_2257insGTTCAGCAC | ENSP00000394410.2:p.His752_Ile753insValGlnHis | |
| ENST00000430374.6:c.2256_2257insGTTCAGCAC | ENSP00000405077.2:p.His752_Ile753insValGlnHis | |
| ENST00000444508.6:c.2256_2257insGTTCAGCAC | ENSP00000398969.2:p.His752_Ile753insValGlnHis | |
| ENST00000697899.1:c.2022_2023insGTTCAGCAC | ENSP00000513470.1:p.His674_Ile675insValGlnHis | |
| ENST00000697901.1:c.*1011_*1012insGTTCAGCAC | ENSP00000513471.1:n.*1011_*1012insGTTCAGCAC | |
| ENST00000697903.1:c.*743_*744insGTTCAGCAC | ENSP00000513472.1:n.*743_*744insGTTCAGCAC | |
| ENST00000697904.1:c.*743_*744insGTTCAGCAC | ENSP00000513473.1:n.*743_*744insGTTCAGCAC | |
| ENST00000697905.1:c.*743_*744insGTTCAGCAC | ENSP00000513474.1:n.*743_*744insGTTCAGCAC | |
| ENST00000697906.1:c.2022_2023insGTTCAGCAC | ENSP00000513475.1:p.His674_Ile675insValGlnHis | |
| ENST00000697907.1:c.*1114_*1115insGTTCAGCAC | ENSP00000513476.1:n.*1114_*1115insGTTCAGCAC | |
| ENST00000697908.1:n.1950_1951insGTTCAGCAC | ||
| ENST00000697909.1:n.1148_1149insGTTCAGCAC | ||
| ENST00000697910.1:n.653_654insGTTCAGCAC | ||
| ENST00000697911.1:n.562_563insGTTCAGCAC | ||
| ENST00000357276.9:c.2256_2257insGTTCAGCAC MANE Select | ENSP00000349823.4:p.His752_Ile753insValGlnHis | |
| ENST00000357276.8:c.2256_2257insGTTCAGCAC | ENSP00000349823.4:p.His752_Ile753insValGlnHis | |
| ENST00000358207.9:c.2256_2257insGTTCAGCAC | ENSP00000350940.5:p.His752_Ile753insValGlnHis | |
| ENST00000392128.6:c.1782_1783insGTTCAGCAC | ENSP00000375974.2:p.His594_Ile595insValGlnHis | |
| NM_001127207.1:c.2256_2257insGTTCAGCAC | NP_001120679.1:p.His752_Ile753insValGlnHis | |
| NM_014140.3:c.2256_2257insGTTCAGCAC , LRG_108t1:c.2256_2257insGTTCAGCAC | NP_054859.2:p.His752_Ile753insValGlnHis | |
| XM_005246631.2:c.2256_2257insGTTCAGCAC | XP_005246688.1:p.His752_Ile753insValGlnHis | |
| XM_005246632.1:c.2256_2257insGTTCAGCAC | XP_005246689.1:p.His752_Ile753insValGlnHis | |
| XM_006712557.1:c.2190_2191insGTTCAGCAC | XP_006712620.1:p.His730_Ile731insValGlnHis | |
| XM_005246632.2:c.2256_2257insGTTCAGCAC | XP_005246689.1:p.His752_Ile753insValGlnHis | |
| XM_017004228.2:c.1344_1345insGTTCAGCAC | XP_016859717.1:p.His448_Ile449insValGlnHis | |
| NM_001127207.2:c.2256_2257insGTTCAGCAC | NP_001120679.1:p.His752_Ile753insValGlnHis | |
| NM_014140.4:c.2256_2257insGTTCAGCAC MANE Select | NP_054859.2:p.His752_Ile753insValGlnHis |