Canonical Allele Identifier: CA1998799373

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302626_108302629delinsGAGT , CM000673.2:g.108302626_108302629delinsGAGT	GRCh38
NC_000011.9:g.108173353_108173356delinsGAGT , CM000673.1:g.108173353_108173356delinsGAGT	GRCh37
NC_000011.8:g.107678563_107678566delinsGAGT	NCBI36
NG_009830.1:g.84795_84798delinsGAGT , LRG_135:g.84795_84798delinsGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5320-227_5320-224delinsGAGT	ENSP00000388058.2:n.5320-227_5320-224delinsGAGT
ENST00000713593.1:c.*4791-227_*4791-224delinsGAGT	ENSP00000518889.1:n.*4791-227_*4791-224delinsGAGT
ENST00000278616.9:c.5320-227_5320-224delinsGAGT	ENSP00000278616.4:n.5320-227_5320-224delinsGAGT
ENST00000683174.1:n.6804-227_6804-224delinsGAGT
ENST00000683524.1:n.544-227_544-224delinsGAGT
ENST00000684152.1:n.1034-227_1034-224delinsGAGT
ENST00000527805.6:c.*384-227_*384-224delinsGAGT	ENSP00000435747.2:n.*384-227_*384-224delinsGAGT
ENST00000675595.1:c.*384-227_*384-224delinsGAGT	ENSP00000502563.1:n.*384-227_*384-224delinsGAGT
ENST00000675843.1:c.5320-227_5320-224delinsGAGT MANE Select	ENSP00000501606.1:n.5320-227_5320-224delinsGAGT
ENST00000278616.8:c.5320-227_5320-224delinsGAGT	ENSP00000278616.4:n.5320-227_5320-224delinsGAGT
ENST00000452508.6:c.5320-227_5320-224delinsGAGT	ENSP00000388058.2:n.5320-227_5320-224delinsGAGT
ENST00000524792.5:n.1535-227_1535-224delinsGAGT
ENST00000533690.5:n.724-227_724-224delinsGAGT
ENST00000534625.1:n.549-227_549-224delinsGAGT
NM_000051.3:c.5320-227_5320-224delinsGAGT , LRG_135t1:c.5320-227_5320-224delinsGAGT	NP_000042.3:n.5320-227_5320-224delinsGAGT
XM_005271561.3:c.5320-227_5320-224delinsGAGT	XP_005271618.2:n.5320-227_5320-224delinsGAGT
XM_005271562.3:c.5320-227_5320-224delinsGAGT	XP_005271619.2:n.5320-227_5320-224delinsGAGT
XM_006718843.2:c.5320-227_5320-224delinsGAGT	XP_006718906.1:n.5320-227_5320-224delinsGAGT
XM_006718845.1:c.1276-227_1276-224delinsGAGT	XP_006718908.1:n.1276-227_1276-224delinsGAGT
XM_011542840.1:c.5320-227_5320-224delinsGAGT	XP_011541142.1:n.5320-227_5320-224delinsGAGT
XM_011542841.1:c.5320-227_5320-224delinsGAGT	XP_011541143.1:n.5320-227_5320-224delinsGAGT
XM_011542842.1:c.5155-227_5155-224delinsGAGT	XP_011541144.1:n.5155-227_5155-224delinsGAGT
XM_011542843.1:c.5320-227_5320-224delinsGAGT	XP_011541145.1:n.5320-227_5320-224delinsGAGT
XM_011542844.1:c.4276-227_4276-224delinsGAGT	XP_011541146.1:n.4276-227_4276-224delinsGAGT
XM_011542845.1:c.4012-227_4012-224delinsGAGT	XP_011541147.1:n.4012-227_4012-224delinsGAGT
XM_011542846.1:c.5319-225_5319-222delinsGAGT	XP_011541148.1:n.5319-225_5319-222delinsGAGT
XM_011542847.1:c.391-227_391-224delinsGAGT	XP_011541149.1:n.391-227_391-224delinsGAGT
NM_001351834.1:c.5320-227_5320-224delinsGAGT	NP_001338763.1:n.5320-227_5320-224delinsGAGT
XM_005271562.5:c.5320-227_5320-224delinsGAGT	XP_005271619.2:n.5320-227_5320-224delinsGAGT
XM_006718843.4:c.5320-227_5320-224delinsGAGT	XP_006718906.1:n.5320-227_5320-224delinsGAGT
XM_006718845.2:c.1276-227_1276-224delinsGAGT	XP_006718908.1:n.1276-227_1276-224delinsGAGT
XM_011542840.3:c.5320-227_5320-224delinsGAGT	XP_011541142.1:n.5320-227_5320-224delinsGAGT
XM_011542842.3:c.5155-227_5155-224delinsGAGT	XP_011541144.1:n.5155-227_5155-224delinsGAGT
XM_011542843.2:c.5320-227_5320-224delinsGAGT	XP_011541145.1:n.5320-227_5320-224delinsGAGT
XM_011542844.3:c.4276-227_4276-224delinsGAGT	XP_011541146.1:n.4276-227_4276-224delinsGAGT
XM_011542845.2:c.4012-227_4012-224delinsGAGT	XP_011541147.1:n.4012-227_4012-224delinsGAGT
XM_017017789.2:c.5320-227_5320-224delinsGAGT	XP_016873278.1:n.5320-227_5320-224delinsGAGT
XM_017017790.2:c.5320-227_5320-224delinsGAGT	XP_016873279.1:n.5320-227_5320-224delinsGAGT
XM_017017791.1:c.5320-227_5320-224delinsGAGT	XP_016873280.1:n.5320-227_5320-224delinsGAGT
XM_017017792.2:c.*1-227_*1-224delinsGAGT	XP_016873281.1:n.*1-227_*1-224delinsGAGT
XR_002957150.1:n.5920-227_5920-224delinsGAGT
NM_001351834.2:c.5320-227_5320-224delinsGAGT	NP_001338763.1:n.5320-227_5320-224delinsGAGT
NM_000051.4:c.5320-227_5320-224delinsGAGT MANE Select	NP_000042.3:n.5320-227_5320-224delinsGAGT