dbSNP Id:
rs1330454198

gnomAD:
12:105583518 G / GA

MyVariant Identifiers:
chr12:g.105583518_105583519insA (hg19)
chr12:g.105189740_105189741insA (hg38)

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

NC_000012.12:g.105189743dup , CM000674.2:g.105189743dup | GRCh38 |

NC_000012.11:g.105583521dup , CM000674.1:g.105583521dup | GRCh37 |

NC_000012.10:g.104107651dup | NCBI36 |

NG_030419.1:g.51490dup |

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

ENST00000258530.8:c.1459+31dup MANE Select | ENSP00000258530.3:n.1459+31dup | |

ENST00000258530.7:c.1459+31dup | ENSP00000258530.3:n.1459+31dup | |

ENST00000539978.6:c.1330+31dup | ENSP00000444472.2:n.1330+31dup | |

ENST00000547439.5:c.*744+31dup | ENSP00000449410.1:n.*744+31dup | |

ENST00000547809.5:n.1469+31dup | ||

ENST00000551662.5:c.1477+31dup | ENSP00000446917.1:n.1477+31dup | |

ENST00000552945.1:n.299+31dup | ||

ENST00000553109.1:n.103+31dup | ENSP00000446510.1:n.103+31dup | |

NM_001251904.1:c.1477+31dup | NP_001238833.1:n.1477+31dup | |

NM_001251905.1:c.1330+31dup | NP_001238834.1:n.1330+31dup | |

NM_018171.3:c.1459+31dup | NP_060641.2:n.1459+31dup | |

XM_006719472.1:c.1477+31dup | XP_006719535.1:n.1477+31dup | |

XM_011538530.1:c.1438+31dup | XP_011536832.1:n.1438+31dup | |

XM_011538531.1:c.1348+31dup | XP_011536833.1:n.1348+31dup | |

XM_011538532.1:c.1348+31dup | XP_011536834.1:n.1348+31dup | |

XM_011538530.3:c.1438+31dup | XP_011536832.1:n.1438+31dup | |

XM_011538531.3:c.1348+31dup | XP_011536833.1:n.1348+31dup | |

XM_011538532.3:c.1348+31dup | XP_011536834.1:n.1348+31dup | |

XM_017019551.2:c.1420+31dup | XP_016875040.1:n.1420+31dup | |

XM_017019552.2:c.1330+31dup | XP_016875041.1:n.1330+31dup | |

XM_017019553.2:c.1330+31dup | XP_016875042.1:n.1330+31dup | |

XM_017019554.1:c.1459+31dup | XP_016875043.1:n.1459+31dup | |

XR_001748795.1:n.1639+31dup | ||

XR_001748796.1:n.1621+31dup | ||

NM_018171.4:c.1459+31dup | NP_060641.2:n.1459+31dup | |

NM_018171.5:c.1459+31dup MANE Select | NP_060641.2:n.1459+31dup | |

NM_001251904.2:c.1477+31dup | NP_001238833.1:n.1477+31dup | |

NM_001251905.2:c.1330+31dup | NP_001238834.1:n.1330+31dup |