Linked Data
ClinVar Variation Id:
931873
ClinVar RCV Id:
RCV001198837
dbSNP Id:
rs2056451263
gnomAD v4:
21-34792300-C-CGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792302_34792303insGGGGGGGGGGG , CM000683.2:g.34792302_34792303insGGGGGGGGGGG | GRCh38 |
| NC_000021.8:g.36164599_36164600insGGGGGGGGGGG , CM000683.1:g.36164599_36164600insGGGGGGGGGGG | GRCh37 |
| NC_000021.7:g.35086469_35086470insGGGGGGGGGGG | NCBI36 |
| NG_011402.2:g.1197411_1197412insCCCCCCCCCCC , LRG_482:g.1197411_1197412insCCCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1277_1278insCCCCCCCCCCC MANE Select | ENSP00000501943.1:p.Arg427ProfsTer? | |
| ENST00000300305.7:c.1277_1278insCCCCCCCCCCC | ENSP00000300305.3:p.Arg427ProfsTer? | |
| ENST00000344691.8:c.1196_1197insCCCCCCCCCCC | ENSP00000340690.4:p.Arg400ProfsTer? | |
| ENST00000399240.5:c.1004_1005insCCCCCCCCCCC | ENSP00000382184.1:p.Arg336ProfsTer? | |
| ENST00000437180.5:c.1277_1278insCCCCCCCCCCC | ENSP00000409227.1:p.Arg427ProfsTer? | |
| ENST00000482318.5:c.*867_*868insCCCCCCCCCCC | ENSP00000477067.1:n.*867_*868insCCCCCCCCCCC | |
| NM_001001890.2:c.1196_1197insCCCCCCCCCCC | NP_001001890.1:p.Arg400ProfsTer? | |
| NM_001754.4:c.1277_1278insCCCCCCCCCCC , LRG_482t1:c.1277_1278insCCCCCCCCCCC | NP_001745.2:p.Arg427ProfsTer? | |
| XM_005261068.3:c.1241_1242insCCCCCCCCCCC | XP_005261125.1:p.Arg415ProfsTer? | |
| XM_005261069.3:c.1085_1086insCCCCCCCCCCC | XP_005261126.1:p.Arg363ProfsTer? | |
| XM_011529766.1:c.1277_1278insCCCCCCCCCCC | XP_011528068.1:p.Arg427ProfsTer? | |
| XM_011529767.1:c.1238_1239insCCCCCCCCCCC | XP_011528069.1:p.Arg414ProfsTer? | |
| XM_011529768.1:c.1046_1047insCCCCCCCCCCC | XP_011528070.1:p.Arg350ProfsTer? | |
| XM_005261069.4:c.1085_1086insCCCCCCCCCCC | XP_005261126.1:p.Arg363ProfsTer? | |
| XM_011529766.2:c.1277_1278insCCCCCCCCCCC | XP_011528068.1:p.Arg427ProfsTer? | |
| XM_011529767.2:c.1238_1239insCCCCCCCCCCC | XP_011528069.1:p.Arg414ProfsTer? | |
| XM_011529768.2:c.1046_1047insCCCCCCCCCCC | XP_011528070.1:p.Arg350ProfsTer? | |
| XM_017028487.1:c.1124_1125insCCCCCCCCCCC | XP_016883976.1:p.Arg376ProfsTer? | |
| NM_001001890.3:c.1196_1197insCCCCCCCCCCC | NP_001001890.1:p.Arg400ProfsTer? | |
| NM_001754.5:c.1277_1278insCCCCCCCCCCC MANE Select | NP_001745.2:p.Arg427ProfsTer? |