Canonical Allele Identifier: CA6264918
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs761134097

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108253945_108253946insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC , CM000673.2:g.108253945_108253946insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC GRCh38
NC_000011.9:g.108124672_108124673insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC , CM000673.1:g.108124672_108124673insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC GRCh37
NC_000011.8:g.107629882_107629883insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC NCBI36
NG_009830.1:g.36114_36115insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC , LRG_135:g.36114_36115insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000388058.2:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyG...
ENST00000713593.1:c.*1501_*1502insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000518889.1:n.*1501_*1502insCCCAGGAGTTCAAGACCAGCCTGGGCA...
ENST00000278616.9:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000278616.4:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyG...
ENST00000682516.1:n.2164_2165insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC
ENST00000683174.1:n.2180_2181insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC
ENST00000683605.1:n.1525_1526insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC
ENST00000684037.1:c.*965_*966insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000508245.1:n.*965_*966insCCCAGGAGTTCAAGACCAGCCTGGGCAAC...
ENST00000684061.1:n.2164_2165insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC
ENST00000527805.6:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000435747.2:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyG...
ENST00000675595.1:c.1865_1866insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000502563.1:p.Ser622_Ile623insProGlyValGlnAspGlnProGlyG...
ENST00000675843.1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC MANE Select ENSP00000501606.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyG...
ENST00000278616.8:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000278616.4:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyG...
ENST00000452508.6:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000388058.2:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyG...
ENST00000525012.5:n.207_208insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC
ENST00000527805.5:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC ENSP00000435747.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyG...
ENST00000533526.1:n.183_184insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC
NM_000051.3:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC , LRG_135t1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC NP_000042.3:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnHisG...
XM_005271561.3:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_005271618.2:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_005271562.3:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_005271619.2:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_006718843.2:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_006718906.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_011542840.1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541142.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_011542841.1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541143.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_011542842.1:c.1865_1866insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541144.1:p.Ser622_Ile623insProGlyValGlnAspGlnProGlyGlnH...
XM_011542843.1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541145.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_011542844.1:c.986_987insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541146.1:p.Ser329_Ile330insProGlyValGlnAspGlnProGlyGlnH...
XM_011542845.1:c.722_723insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541147.1:p.Ser241_Ile242insProGlyValGlnAspGlnProGlyGlnH...
XM_011542846.1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541148.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
NM_001351834.1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC NP_001338763.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_005271562.5:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_005271619.2:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_006718843.4:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_006718906.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_011542840.3:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541142.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_011542842.3:c.1865_1866insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541144.1:p.Ser622_Ile623insProGlyValGlnAspGlnProGlyGlnH...
XM_011542843.2:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541145.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_011542844.3:c.986_987insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541146.1:p.Ser329_Ile330insProGlyValGlnAspGlnProGlyGlnH...
XM_011542845.2:c.722_723insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_011541147.1:p.Ser241_Ile242insProGlyValGlnAspGlnProGlyGlnH...
XM_017017789.2:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_016873278.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_017017790.2:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_016873279.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_017017791.1:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_016873280.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XM_017017792.2:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC XP_016873281.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
XR_002957150.1:n.2763_2764insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC
NM_001351834.2:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC NP_001338763.1:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnH...
NM_000051.4:c.2030_2031insCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCGTC MANE Select NP_000042.3:p.Ser677_Ile678insProGlyValGlnAspGlnProGlyGlnHisG...