Linked Data
ClinVar Variation Id:
520459
dbSNP Id:
rs1474459822
gnomAD v2:
3-38592237-C-CCAT
gnomAD v3:
3-38550746-C-CCAT
gnomAD v4:
3-38550746-C-CCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38550748_38550750dup , CM000665.2:g.38550748_38550750dup | GRCh38 |
| NC_000003.11:g.38592239_38592241dup , CM000665.1:g.38592239_38592241dup | GRCh37 |
| NC_000003.10:g.38567243_38567245dup | NCBI36 |
| NG_008934.1:g.103924_103926dup , LRG_289:g.103924_103926dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.5620_5622dup | ENSP00000333674.7:p.Met1874_Glu1875insMet | |
| ENST00000333535.9:c.5623_5625dup | ENSP00000328968.4:p.Met1875_Glu1876insMet | |
| ENST00000413689.6:c.5623_5625dup MANE Plus Clinical | ENSP00000410257.1:p.Met1875_Glu1876insMet | |
| ENST00000423572.7:c.5620_5622dup MANE Select | ENSP00000398266.2:p.Met1874_Glu1875insMet | |
| ENST00000333535.8:c.5623_5625dup | ENSP00000328968.4:p.Met1875_Glu1876insMet | |
| ENST00000413689.5:c.5623_5625dup | ENSP00000410257.1:p.Met1875_Glu1876insMet | |
| ENST00000414099.6:c.5569_5571dup | ENSP00000398962.2:p.Met1857_Glu1858insMet | |
| ENST00000423572.6:c.5620_5622dup | ENSP00000398266.2:p.Met1874_Glu1875insMet | |
| ENST00000425664.5:c.5569_5571dup | ENSP00000416634.1:p.Met1857_Glu1858insMet | |
| ENST00000449557.6:c.5461_5463dup | ENSP00000413996.2:p.Met1821_Glu1822insMet | |
| ENST00000450102.6:c.5461_5463dup | ENSP00000403355.2:p.Met1821_Glu1822insMet | |
| ENST00000451551.6:c.5461_5463dup | ENSP00000388797.2:p.Met1821_Glu1822insMet | |
| ENST00000455624.6:c.5524_5526dup | ENSP00000399524.2:p.Met1842_Glu1843insMet | |
| NM_000335.4:c.5620_5622dup , LRG_289t2:c.5620_5622dup | NP_000326.2:p.Met1874_Glu1875insMet | |
| NM_001099404.1:c.5623_5625dup , LRG_289t3:c.5623_5625dup | NP_001092874.1:p.Met1875_Glu1876insMet | |
| NM_001099405.1:c.5569_5571dup | NP_001092875.1:p.Met1857_Glu1858insMet | |
| NM_001160160.1:c.5524_5526dup | NP_001153632.1:p.Met1842_Glu1843insMet | |
| NM_001160161.1:c.5461_5463dup | NP_001153633.1:p.Met1821_Glu1822insMet | |
| NM_198056.2:c.5623_5625dup , LRG_289t1:c.5623_5625dup | NP_932173.1:p.Met1875_Glu1876insMet | |
| XM_006713282.2:c.5623_5625dup | XP_006713345.1:p.Met1875_Glu1876insMet | |
| XM_011533991.1:c.5620_5622dup | XP_011532293.1:p.Met1874_Glu1875insMet | |
| XM_011533992.1:c.5494_5496dup | XP_011532294.1:p.Met1832_Glu1833insMet | |
| NM_001354701.1:c.5566_5568dup | NP_001341630.1:p.Met1856_Glu1857insMet | |
| XM_011533991.2:c.5620_5622dup | XP_011532293.1:p.Met1874_Glu1875insMet | |
| XM_017007017.1:c.5461_5463dup | XP_016862506.1:p.Met1821_Glu1822insMet | |
| NM_000335.5:c.5620_5622dup MANE Select | NP_000326.2:p.Met1874_Glu1875insMet | |
| NM_001160160.2:c.5524_5526dup | NP_001153632.1:p.Met1842_Glu1843insMet | |
| NM_001354701.2:c.5566_5568dup | NP_001341630.1:p.Met1856_Glu1857insMet | |
| NM_001099404.2:c.5623_5625dup MANE Plus Clinical | NP_001092874.1:p.Met1875_Glu1876insMet | |
| NM_001099405.2:c.5569_5571dup | NP_001092875.1:p.Met1857_Glu1858insMet | |
| NM_001160161.2:c.5461_5463dup | NP_001153633.1:p.Met1821_Glu1822insMet | |
| NM_198056.3:c.5623_5625dup | NP_932173.1:p.Met1875_Glu1876insMet |