dbSNP Id:
rs1554073938

HGVS | Genome Assembly |
---|---|

NC_000005.10:g.112788673dup , CM000667.2:g.112788673dup | GRCh38 |

NC_000005.9:g.112124370dup , CM000667.1:g.112124370dup | GRCh37 |

NC_000005.8:g.112152269dup | NCBI36 |

NG_008481.4:g.101153dup , LRG_130:g.101153dup |

HGVS | Amino-acid change | |
---|---|---|

ENST00000257430.9:c.646-3773dup MANE Select | ENSP00000257430.4:n.646-3773dup | |

ENST00000257430.8:c.646-3773dup | ENSP00000257430.4:n.646-3773dup | |

ENST00000507379.5:c.675+7770dup | ENSP00000423224.1:n.675+7770dup | |

ENST00000508376.6:c.646-3773dup | ENSP00000427089.2:n.646-3773dup | |

ENST00000508624.5:c.646-3773dup | ENSP00000424265.1:n.646-3773dup | |

ENST00000512211.6:c.646-3773dup | ENSP00000423828.2:n.646-3773dup | |

NM_000038.5:c.646-3773dup | NP_000029.2:n.646-3773dup | |

NM_001127510.2:c.646-3773dup | NP_001120982.1:n.646-3773dup | |

NM_001127511.2:c.675+7770dup | NP_001120983.2:n.675+7770dup | |

NM_001354895.1:c.646-3773dup | NP_001341824.1:n.646-3773dup | |

NM_001354896.1:c.646-3773dup | NP_001341825.1:n.646-3773dup | |

NM_001354897.1:c.676-3773dup | NP_001341826.1:n.676-3773dup | |

NM_001354898.1:c.571-3773dup | NP_001341827.1:n.571-3773dup | |

NM_001354899.1:c.645+7770dup | NP_001341828.1:n.645+7770dup | |

NM_001354900.1:c.469-3773dup | NP_001341829.1:n.469-3773dup | |

NM_001354901.1:c.469-3773dup | NP_001341830.1:n.469-3773dup | |

NM_001354902.1:c.676-3773dup | NP_001341831.1:n.676-3773dup | |

NM_001354903.1:c.646-3773dup | NP_001341832.1:n.646-3773dup | |

NM_001354904.1:c.571-3773dup | NP_001341833.1:n.571-3773dup | |

NM_001354905.1:c.469-3773dup | NP_001341834.1:n.469-3773dup | |

NM_001354906.1:c.-390-3773dup | NP_001341835.1:n.-390-3773dup | |

NM_000038.6:c.646-3773dup MANE Select | NP_000029.2:n.646-3773dup | |

NM_001127510.3:c.646-3773dup | NP_001120982.1:n.646-3773dup | |

NM_001127511.3:c.675+7770dup | NP_001120983.2:n.675+7770dup | |

NM_001354895.2:c.646-3773dup | NP_001341824.1:n.646-3773dup | |

NM_001354896.2:c.646-3773dup | NP_001341825.1:n.646-3773dup | |

NM_001354897.2:c.676-3773dup | NP_001341826.1:n.676-3773dup | |

NM_001354898.2:c.571-3773dup | NP_001341827.1:n.571-3773dup | |

NM_001354899.2:c.645+7770dup | NP_001341828.1:n.645+7770dup | |

NM_001354900.2:c.469-3773dup | NP_001341829.1:n.469-3773dup | |

NM_001354901.2:c.469-3773dup | NP_001341830.1:n.469-3773dup | |

NM_001354902.2:c.676-3773dup | NP_001341831.1:n.676-3773dup | |

NM_001354903.2:c.646-3773dup | NP_001341832.1:n.646-3773dup | |

NM_001354904.2:c.571-3773dup | NP_001341833.1:n.571-3773dup | |

NM_001354905.2:c.469-3773dup | NP_001341834.1:n.469-3773dup | |

NM_001354906.2:c.-390-3773dup | NP_001341835.1:n.-390-3773dup |