Canonical Allele Identifier: CA1998772256

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253652_108253657delinsGAAGAA , CM000673.2:g.108253652_108253657delinsGAAGAA	GRCh38
NC_000011.9:g.108124379_108124384delinsGAAGAA , CM000673.1:g.108124379_108124384delinsGAAGAA	GRCh37
NC_000011.8:g.107629589_107629594delinsGAAGAA	NCBI36
NG_009830.1:g.35821_35826delinsGAAGAA , LRG_135:g.35821_35826delinsGAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1899-162_1899-157delinsGAAGAA	ENSP00000388058.2:n.1899-162_1899-157delinsGAAGAA
ENST00000713593.1:c.*1370-162_*1370-157delinsGAAGAA	ENSP00000518889.1:n.*1370-162_*1370-157delinsGAAGAA
ENST00000278616.9:c.1899-162_1899-157delinsGAAGAA	ENSP00000278616.4:n.1899-162_1899-157delinsGAAGAA
ENST00000682516.1:n.2033-162_2033-157delinsGAAGAA
ENST00000683174.1:n.2049-162_2049-157delinsGAAGAA
ENST00000683605.1:n.1394-162_1394-157delinsGAAGAA
ENST00000684037.1:c.*834-162_*834-157delinsGAAGAA	ENSP00000508245.1:n.*834-162_*834-157delinsGAAGAA
ENST00000684061.1:n.2033-162_2033-157delinsGAAGAA
ENST00000527805.6:c.1899-162_1899-157delinsGAAGAA	ENSP00000435747.2:n.1899-162_1899-157delinsGAAGAA
ENST00000675595.1:c.1734-162_1734-157delinsGAAGAA	ENSP00000502563.1:n.1734-162_1734-157delinsGAAGAA
ENST00000675843.1:c.1899-162_1899-157delinsGAAGAA MANE Select	ENSP00000501606.1:n.1899-162_1899-157delinsGAAGAA
ENST00000278616.8:c.1899-162_1899-157delinsGAAGAA	ENSP00000278616.4:n.1899-162_1899-157delinsGAAGAA
ENST00000452508.6:c.1899-162_1899-157delinsGAAGAA	ENSP00000388058.2:n.1899-162_1899-157delinsGAAGAA
ENST00000525012.5:n.93-179_93-174delinsGAAGAA
ENST00000527805.5:c.1899-162_1899-157delinsGAAGAA	ENSP00000435747.1:n.1899-162_1899-157delinsGAAGAA
ENST00000533526.1:n.93-203_93-198delinsGAAGAA
NM_000051.3:c.1899-162_1899-157delinsGAAGAA , LRG_135t1:c.1899-162_1899-157delinsGAAGAA	NP_000042.3:n.1899-162_1899-157delinsGAAGAA
XM_005271561.3:c.1899-162_1899-157delinsGAAGAA	XP_005271618.2:n.1899-162_1899-157delinsGAAGAA
XM_005271562.3:c.1899-162_1899-157delinsGAAGAA	XP_005271619.2:n.1899-162_1899-157delinsGAAGAA
XM_006718843.2:c.1899-162_1899-157delinsGAAGAA	XP_006718906.1:n.1899-162_1899-157delinsGAAGAA
XM_011542840.1:c.1899-162_1899-157delinsGAAGAA	XP_011541142.1:n.1899-162_1899-157delinsGAAGAA
XM_011542841.1:c.1899-162_1899-157delinsGAAGAA	XP_011541143.1:n.1899-162_1899-157delinsGAAGAA
XM_011542842.1:c.1734-162_1734-157delinsGAAGAA	XP_011541144.1:n.1734-162_1734-157delinsGAAGAA
XM_011542843.1:c.1899-162_1899-157delinsGAAGAA	XP_011541145.1:n.1899-162_1899-157delinsGAAGAA
XM_011542844.1:c.855-162_855-157delinsGAAGAA	XP_011541146.1:n.855-162_855-157delinsGAAGAA
XM_011542845.1:c.591-162_591-157delinsGAAGAA	XP_011541147.1:n.591-162_591-157delinsGAAGAA
XM_011542846.1:c.1899-162_1899-157delinsGAAGAA	XP_011541148.1:n.1899-162_1899-157delinsGAAGAA
NM_001351834.1:c.1899-162_1899-157delinsGAAGAA	NP_001338763.1:n.1899-162_1899-157delinsGAAGAA
XM_005271562.5:c.1899-162_1899-157delinsGAAGAA	XP_005271619.2:n.1899-162_1899-157delinsGAAGAA
XM_006718843.4:c.1899-162_1899-157delinsGAAGAA	XP_006718906.1:n.1899-162_1899-157delinsGAAGAA
XM_011542840.3:c.1899-162_1899-157delinsGAAGAA	XP_011541142.1:n.1899-162_1899-157delinsGAAGAA
XM_011542842.3:c.1734-162_1734-157delinsGAAGAA	XP_011541144.1:n.1734-162_1734-157delinsGAAGAA
XM_011542843.2:c.1899-162_1899-157delinsGAAGAA	XP_011541145.1:n.1899-162_1899-157delinsGAAGAA
XM_011542844.3:c.855-162_855-157delinsGAAGAA	XP_011541146.1:n.855-162_855-157delinsGAAGAA
XM_011542845.2:c.591-162_591-157delinsGAAGAA	XP_011541147.1:n.591-162_591-157delinsGAAGAA
XM_017017789.2:c.1899-162_1899-157delinsGAAGAA	XP_016873278.1:n.1899-162_1899-157delinsGAAGAA
XM_017017790.2:c.1899-162_1899-157delinsGAAGAA	XP_016873279.1:n.1899-162_1899-157delinsGAAGAA
XM_017017791.1:c.1899-162_1899-157delinsGAAGAA	XP_016873280.1:n.1899-162_1899-157delinsGAAGAA
XM_017017792.2:c.1899-162_1899-157delinsGAAGAA	XP_016873281.1:n.1899-162_1899-157delinsGAAGAA
XR_002957150.1:n.2632-162_2632-157delinsGAAGAA
NM_001351834.2:c.1899-162_1899-157delinsGAAGAA	NP_001338763.1:n.1899-162_1899-157delinsGAAGAA
NM_000051.4:c.1899-162_1899-157delinsGAAGAA MANE Select	NP_000042.3:n.1899-162_1899-157delinsGAAGAA