Canonical Allele Identifier: CA1998777286
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108272803_108272804delinsGC , CM000673.2:g.108272803_108272804delinsGC GRCh38
NC_000011.9:g.108143530_108143531delinsGC , CM000673.1:g.108143530_108143531delinsGC GRCh37
NC_000011.8:g.107648740_107648741delinsGC NCBI36
NG_009830.1:g.54972_54973delinsGC , LRG_135:g.54972_54973delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.3235_3236delinsGC ENSP00000388058.2:p.Ala1079=
ENST00000713593.1:c.*2706_*2707delinsGC ENSP00000518889.1:n.*2706_*2707delinsGC
ENST00000278616.9:c.3235_3236delinsGC ENSP00000278616.4:p.Ala1079=
ENST00000683174.1:n.3385_3386delinsGC
ENST00000527805.6:c.3235_3236delinsGC ENSP00000435747.2:p.Ala1079=
ENST00000675595.1:c.3070_3071delinsGC ENSP00000502563.1:p.Ala1024=
ENST00000675843.1:c.3235_3236delinsGC MANE Select ENSP00000501606.1:p.Ala1079=
ENST00000278616.8:c.3235_3236delinsGC ENSP00000278616.4:p.Ala1079=
ENST00000452508.6:c.3235_3236delinsGC ENSP00000388058.2:p.Ala1079=
ENST00000527805.5:c.3235_3236delinsGC ENSP00000435747.1:p.Ala1079=
NM_000051.3:c.3235_3236delinsGC , LRG_135t1:c.3235_3236delinsGC NP_000042.3:p.Ala1079=
XM_005271561.3:c.3235_3236delinsGC XP_005271618.2:p.Ala1079=
XM_005271562.3:c.3235_3236delinsGC XP_005271619.2:p.Ala1079=
XM_006718843.2:c.3235_3236delinsGC XP_006718906.1:p.Ala1079=
XM_011542840.1:c.3235_3236delinsGC XP_011541142.1:p.Ala1079=
XM_011542841.1:c.3235_3236delinsGC XP_011541143.1:p.Ala1079=
XM_011542842.1:c.3070_3071delinsGC XP_011541144.1:p.Ala1024=
XM_011542843.1:c.3235_3236delinsGC XP_011541145.1:p.Ala1079=
XM_011542844.1:c.2191_2192delinsGC XP_011541146.1:p.Ala731=
XM_011542845.1:c.1927_1928delinsGC XP_011541147.1:p.Ala643=
XM_011542846.1:c.3235_3236delinsGC XP_011541148.1:p.Ala1079=
NM_001351834.1:c.3235_3236delinsGC NP_001338763.1:p.Ala1079=
XM_005271562.5:c.3235_3236delinsGC XP_005271619.2:p.Ala1079=
XM_006718843.4:c.3235_3236delinsGC XP_006718906.1:p.Ala1079=
XM_011542840.3:c.3235_3236delinsGC XP_011541142.1:p.Ala1079=
XM_011542842.3:c.3070_3071delinsGC XP_011541144.1:p.Ala1024=
XM_011542843.2:c.3235_3236delinsGC XP_011541145.1:p.Ala1079=
XM_011542844.3:c.2191_2192delinsGC XP_011541146.1:p.Ala731=
XM_011542845.2:c.1927_1928delinsGC XP_011541147.1:p.Ala643=
XM_017017789.2:c.3235_3236delinsGC XP_016873278.1:p.Ala1079=
XM_017017790.2:c.3235_3236delinsGC XP_016873279.1:p.Ala1079=
XM_017017791.1:c.3235_3236delinsGC XP_016873280.1:p.Ala1079=
XM_017017792.2:c.3235_3236delinsGC XP_016873281.1:p.Ala1079=
XR_002957150.1:n.3968_3969delinsGC
NM_001351834.2:c.3235_3236delinsGC NP_001338763.1:p.Ala1079=
NM_000051.4:c.3235_3236delinsGC MANE Select NP_000042.3:p.Ala1079=