Canonical Allele Identifier: CA16619107
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 422200
dbSNP Id: rs1064795624

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108248993_108248994del , CM000673.2:g.108248993_108248994del GRCh38
NC_000011.9:g.108119720_108119721del , CM000673.1:g.108119720_108119721del GRCh37
NC_000011.8:g.107624930_107624931del NCBI36
NG_009830.1:g.31162_31163del , LRG_135:g.31162_31163del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.1126_1127del ENSP00000388058.2:p.Glu376IlefsTer2
ENST00000713593.1:c.*597_*598del ENSP00000518889.1:n.*597_*598del
ENST00000278616.9:c.1126_1127del ENSP00000278616.4:p.Glu376IlefsTer2
ENST00000682516.1:n.1260_1261del
ENST00000682956.1:n.1260_1261del
ENST00000683174.1:n.1276_1277del
ENST00000683605.1:n.621_622del
ENST00000684037.1:c.*61_*62del ENSP00000508245.1:n.*61_*62del
ENST00000684061.1:n.1260_1261del
ENST00000684179.1:n.1095_1096del
ENST00000527805.6:c.1126_1127del ENSP00000435747.2:p.Glu376IlefsTer2
ENST00000675595.1:c.961_962del ENSP00000502563.1:p.Glu321IlefsTer2
ENST00000675843.1:c.1126_1127del MANE Select ENSP00000501606.1:p.Glu376IlefsTer2
ENST00000278616.8:c.1126_1127del ENSP00000278616.4:p.Glu376IlefsTer2
ENST00000452508.6:c.1126_1127del ENSP00000388058.2:p.Glu376IlefsTer2
ENST00000527805.5:c.1126_1127del ENSP00000435747.1:p.Glu376IlefsTer2
NM_000051.3:c.1126_1127del , LRG_135t1:c.1126_1127del NP_000042.3:p.Glu376IlefsTer2
XM_005271561.3:c.1126_1127del XP_005271618.2:p.Glu376IlefsTer2
XM_005271562.3:c.1126_1127del XP_005271619.2:p.Glu376IlefsTer2
XM_006718843.2:c.1126_1127del XP_006718906.1:p.Glu376IlefsTer2
XM_011542840.1:c.1126_1127del XP_011541142.1:p.Glu376IlefsTer2
XM_011542841.1:c.1126_1127del XP_011541143.1:p.Glu376IlefsTer2
XM_011542842.1:c.961_962del XP_011541144.1:p.Glu321IlefsTer2
XM_011542843.1:c.1126_1127del XP_011541145.1:p.Glu376IlefsTer2
XM_011542844.1:c.82_83del XP_011541146.1:p.Glu28IlefsTer2
XM_011542845.1:c.-73-1708_-73-1707del XP_011541147.1:n.-73-1708_-73-1707del
XM_011542846.1:c.1126_1127del XP_011541148.1:p.Glu376IlefsTer2
NM_001351834.1:c.1126_1127del NP_001338763.1:p.Glu376IlefsTer2
XM_005271562.5:c.1126_1127del XP_005271619.2:p.Glu376IlefsTer2
XM_006718843.4:c.1126_1127del XP_006718906.1:p.Glu376IlefsTer2
XM_011542840.3:c.1126_1127del XP_011541142.1:p.Glu376IlefsTer2
XM_011542842.3:c.961_962del XP_011541144.1:p.Glu321IlefsTer2
XM_011542843.2:c.1126_1127del XP_011541145.1:p.Glu376IlefsTer2
XM_011542844.3:c.82_83del XP_011541146.1:p.Glu28IlefsTer2
XM_011542845.2:c.-73-1708_-73-1707del XP_011541147.1:n.-73-1708_-73-1707del
XM_017017789.2:c.1126_1127del XP_016873278.1:p.Glu376IlefsTer2
XM_017017790.2:c.1126_1127del XP_016873279.1:p.Glu376IlefsTer2
XM_017017791.1:c.1126_1127del XP_016873280.1:p.Glu376IlefsTer2
XM_017017792.2:c.1126_1127del XP_016873281.1:p.Glu376IlefsTer2
XR_002957150.1:n.1859_1860del
NM_001351834.2:c.1126_1127del NP_001338763.1:p.Glu376IlefsTer2
NM_000051.4:c.1126_1127del MANE Select NP_000042.3:p.Glu376IlefsTer2