Linked Data
ClinVar Variation Id:
424626
dbSNP Id:
rs1064797079
gnomAD v2:
3-48626421-C-CTCAG
gnomAD v4:
3-48588988-C-CTCAG
MyVariant Identifiers:
chr3:g.48626421_48626422insTCAG (hg19)
chr3:g.48588988_48588989insTCAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48588989_48588992dup , CM000665.2:g.48588989_48588992dup | GRCh38 |
| NC_000003.11:g.48626422_48626425dup , CM000665.1:g.48626422_48626425dup | GRCh37 |
| NC_000003.10:g.48601426_48601429dup | NCBI36 |
| NG_007065.1:g.11261_11264dup , LRG_286:g.11261_11264dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.2318_2321dup MANE Select | ENSP00000506558.1:p.Glu774AspfsTer2 | |
| ENST00000328333.12:c.2318_2321dup | ENSP00000332371.8:p.Glu774AspfsTer2 | |
| NM_000094.3:c.2318_2321dup , LRG_286t1:c.2318_2321dup | NP_000085.1:p.Glu774AspfsTer2 | |
| XM_011533336.1:c.2345_2348dup | XP_011531638.1:p.Glu783AspfsTer2 | |
| XM_011533337.1:c.2318_2321dup | XP_011531639.1:p.Glu774AspfsTer2 | |
| XM_011533338.1:c.2345_2348dup | XP_011531640.1:p.Glu783AspfsTer2 | |
| XM_011533339.1:c.2345_2348dup | XP_011531641.1:p.Glu783AspfsTer2 | |
| XM_011533340.1:c.2345_2348dup | XP_011531642.1:p.Glu783AspfsTer2 | |
| XM_011533341.1:c.2345_2348dup | XP_011531643.1:p.Glu783AspfsTer2 | |
| XM_011533342.1:c.2345_2348dup | XP_011531644.1:p.Glu783AspfsTer2 | |
| XR_940369.1:n.2381_2384dup | ||
| XR_940370.1:n.2381_2384dup | ||
| XR_940371.1:n.2381_2384dup | ||
| XR_940372.1:n.2381_2384dup | ||
| XR_940373.1:n.2381_2384dup | ||
| XR_940374.1:n.2381_2384dup | ||
| XR_940375.1:n.2381_2384dup | ||
| XM_017005688.1:c.2318_2321dup | XP_016861177.1:p.Glu774AspfsTer2 | |
| XM_017005689.1:c.2318_2321dup | XP_016861178.1:p.Glu774AspfsTer2 | |
| XM_017005690.1:c.2318_2321dup | XP_016861179.1:p.Glu774AspfsTer2 | |
| XM_017005691.1:c.2318_2321dup | XP_016861180.1:p.Glu774AspfsTer2 | |
| XM_017005692.1:c.2318_2321dup | XP_016861181.1:p.Glu774AspfsTer2 | |
| XR_001740003.1:n.2354_2357dup | ||
| XR_001740004.1:n.2354_2357dup | ||
| XR_001740005.1:n.2354_2357dup | ||
| XR_001740006.1:n.2354_2357dup | ||
| XR_001740007.1:n.2354_2357dup | ||
| XR_001740008.1:n.2354_2357dup | ||
| XR_001740009.1:n.2354_2357dup | ||
| NM_000094.4:c.2318_2321dup MANE Select | NP_000085.1:p.Glu774AspfsTer2 |