Canonical Allele Identifier: CA16619118
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 422099
ClinVar RCV Id: RCV000486890
dbSNP Id: rs1064795556
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108250952_108250960delinsTTTCTGAGT , CM000673.2:g.108250952_108250960delinsTTTCTGAGT GRCh38
NC_000011.9:g.108121679_108121687delinsTTTCTGAGT , CM000673.1:g.108121679_108121687delinsTTTCTGAGT GRCh37
NC_000011.8:g.107626889_107626897delinsTTTCTGAGT NCBI36
NG_009830.1:g.33121_33129delinsTTTCTGAGT , LRG_135:g.33121_33129delinsTTTCTGAGT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.1487_1495delinsTTTCTGAGT ENSP00000388058.2:p.Ser496IlefsTer4
ENST00000713593.1:c.*958_*966delinsTTTCTGAGT ENSP00000518889.1:n.*958_*966delinsTTTCTG...
ENST00000278616.9:c.1487_1495delinsTTTCTGAGT ENSP00000278616.4:p.Ser496IlefsTer4
ENST00000682516.1:n.1621_1629delinsTTTCTGAGT
ENST00000682956.1:n.1621_1629delinsTTTCTGAGT
ENST00000683174.1:n.1637_1645delinsTTTCTGAGT
ENST00000683605.1:n.982_990delinsTTTCTGAGT
ENST00000684037.1:c.*422_*430delinsTTTCTGAGT ENSP00000508245.1:n.*422_*430delinsTTTCTG...
ENST00000684061.1:n.1621_1629delinsTTTCTGAGT
ENST00000684179.1:n.1456_1464delinsTTTCTGAGT
ENST00000527805.6:c.1487_1495delinsTTTCTGAGT ENSP00000435747.2:p.Ser496IlefsTer4
ENST00000675595.1:c.1322_1330delinsTTTCTGAGT ENSP00000502563.1:p.Ser441IlefsTer4
ENST00000675843.1:c.1487_1495delinsTTTCTGAGT MANE Select ENSP00000501606.1:p.Ser496IlefsTer4
ENST00000278616.8:c.1487_1495delinsTTTCTGAGT ENSP00000278616.4:p.Ser496IlefsTer4
ENST00000452508.6:c.1487_1495delinsTTTCTGAGT ENSP00000388058.2:p.Ser496IlefsTer4
ENST00000527805.5:c.1487_1495delinsTTTCTGAGT ENSP00000435747.1:p.Ser496IlefsTer4
NM_000051.3:c.1487_1495delinsTTTCTGAGT , LRG_135t1:c.1487_1495delinsTTTCTGAGT NP_000042.3:p.Ser496IlefsTer4
XM_005271561.3:c.1487_1495delinsTTTCTGAGT XP_005271618.2:p.Ser496IlefsTer4
XM_005271562.3:c.1487_1495delinsTTTCTGAGT XP_005271619.2:p.Ser496IlefsTer4
XM_006718843.2:c.1487_1495delinsTTTCTGAGT XP_006718906.1:p.Ser496IlefsTer4
XM_011542840.1:c.1487_1495delinsTTTCTGAGT XP_011541142.1:p.Ser496IlefsTer4
XM_011542841.1:c.1487_1495delinsTTTCTGAGT XP_011541143.1:p.Ser496IlefsTer4
XM_011542842.1:c.1322_1330delinsTTTCTGAGT XP_011541144.1:p.Ser441IlefsTer4
XM_011542843.1:c.1487_1495delinsTTTCTGAGT XP_011541145.1:p.Ser496IlefsTer4
XM_011542844.1:c.443_451delinsTTTCTGAGT XP_011541146.1:p.Ser148IlefsTer4
XM_011542845.1:c.179_187delinsTTTCTGAGT XP_011541147.1:p.Ser60IlefsTer4
XM_011542846.1:c.1487_1495delinsTTTCTGAGT XP_011541148.1:p.Ser496IlefsTer4
NM_001351834.1:c.1487_1495delinsTTTCTGAGT NP_001338763.1:p.Ser496IlefsTer4
XM_005271562.5:c.1487_1495delinsTTTCTGAGT XP_005271619.2:p.Ser496IlefsTer4
XM_006718843.4:c.1487_1495delinsTTTCTGAGT XP_006718906.1:p.Ser496IlefsTer4
XM_011542840.3:c.1487_1495delinsTTTCTGAGT XP_011541142.1:p.Ser496IlefsTer4
XM_011542842.3:c.1322_1330delinsTTTCTGAGT XP_011541144.1:p.Ser441IlefsTer4
XM_011542843.2:c.1487_1495delinsTTTCTGAGT XP_011541145.1:p.Ser496IlefsTer4
XM_011542844.3:c.443_451delinsTTTCTGAGT XP_011541146.1:p.Ser148IlefsTer4
XM_011542845.2:c.179_187delinsTTTCTGAGT XP_011541147.1:p.Ser60IlefsTer4
XM_017017789.2:c.1487_1495delinsTTTCTGAGT XP_016873278.1:p.Ser496IlefsTer4
XM_017017790.2:c.1487_1495delinsTTTCTGAGT XP_016873279.1:p.Ser496IlefsTer4
XM_017017791.1:c.1487_1495delinsTTTCTGAGT XP_016873280.1:p.Ser496IlefsTer4
XM_017017792.2:c.1487_1495delinsTTTCTGAGT XP_016873281.1:p.Ser496IlefsTer4
XR_002957150.1:n.2220_2228delinsTTTCTGAGT
NM_001351834.2:c.1487_1495delinsTTTCTGAGT NP_001338763.1:p.Ser496IlefsTer4
NM_000051.4:c.1487_1495delinsTTTCTGAGT MANE Select NP_000042.3:p.Ser496IlefsTer4
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