Canonical Allele Identifier: CA1998783955

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268388_108268401delinsAATGAGTGCTTTTT , CM000673.2:g.108268388_108268401delinsAATGAGTGCTTTTT	GRCh38
NC_000011.9:g.108139115_108139128delinsAATGAGTGCTTTTT , CM000673.1:g.108139115_108139128delinsAATGAGTGCTTTTT	GRCh37
NC_000011.8:g.107644325_107644338delinsAATGAGTGCTTTTT	NCBI36
NG_009830.1:g.50557_50570delinsAATGAGTGCTTTTT , LRG_135:g.50557_50570delinsAATGAGTGCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2639-22_2639-9delinsAATGAGTGCTTTTT	ENSP00000388058.2:n.2639-22_2639-9delinsAATGAGTGCTTTTT
ENST00000713593.1:c.*2110-22_*2110-9delinsAATGAGTGCTTTTT	ENSP00000518889.1:n.*2110-22_*2110-9delinsAATGAGTGCTTTTT
ENST00000278616.9:c.2639-22_2639-9delinsAATGAGTGCTTTTT	ENSP00000278616.4:n.2639-22_2639-9delinsAATGAGTGCTTTTT
ENST00000682516.1:n.2772+1046_2772+1059delinsAATGAGTGCTTTTT
ENST00000683174.1:n.2789-22_2789-9delinsAATGAGTGCTTTTT
ENST00000684037.1:c.*1573+1046_*1573+1059delinsAATGAGTGCTTTTT	ENSP00000508245.1:n.*1573+1046_*1573+1059delinsAATGAGTGCTTTTT...
ENST00000527805.6:c.2639-22_2639-9delinsAATGAGTGCTTTTT	ENSP00000435747.2:n.2639-22_2639-9delinsAATGAGTGCTTTTT
ENST00000675595.1:c.2474-22_2474-9delinsAATGAGTGCTTTTT	ENSP00000502563.1:n.2474-22_2474-9delinsAATGAGTGCTTTTT
ENST00000675843.1:c.2639-22_2639-9delinsAATGAGTGCTTTTT MANE Select	ENSP00000501606.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
ENST00000278616.8:c.2639-22_2639-9delinsAATGAGTGCTTTTT	ENSP00000278616.4:n.2639-22_2639-9delinsAATGAGTGCTTTTT
ENST00000452508.6:c.2639-22_2639-9delinsAATGAGTGCTTTTT	ENSP00000388058.2:n.2639-22_2639-9delinsAATGAGTGCTTTTT
ENST00000527805.5:c.2639-22_2639-9delinsAATGAGTGCTTTTT	ENSP00000435747.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
NM_000051.3:c.2639-22_2639-9delinsAATGAGTGCTTTTT , LRG_135t1:c.2639-22_2639-9delinsAATGAGTGCTTTTT	NP_000042.3:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_005271561.3:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_005271618.2:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_005271562.3:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_005271619.2:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_006718843.2:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_006718906.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_011542840.1:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_011541142.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_011542841.1:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_011541143.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_011542842.1:c.2474-22_2474-9delinsAATGAGTGCTTTTT	XP_011541144.1:n.2474-22_2474-9delinsAATGAGTGCTTTTT
XM_011542843.1:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_011541145.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_011542844.1:c.1595-22_1595-9delinsAATGAGTGCTTTTT	XP_011541146.1:n.1595-22_1595-9delinsAATGAGTGCTTTTT
XM_011542845.1:c.1331-22_1331-9delinsAATGAGTGCTTTTT	XP_011541147.1:n.1331-22_1331-9delinsAATGAGTGCTTTTT
XM_011542846.1:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_011541148.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
NM_001351834.1:c.2639-22_2639-9delinsAATGAGTGCTTTTT	NP_001338763.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_005271562.5:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_005271619.2:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_006718843.4:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_006718906.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_011542840.3:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_011541142.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_011542842.3:c.2474-22_2474-9delinsAATGAGTGCTTTTT	XP_011541144.1:n.2474-22_2474-9delinsAATGAGTGCTTTTT
XM_011542843.2:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_011541145.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_011542844.3:c.1595-22_1595-9delinsAATGAGTGCTTTTT	XP_011541146.1:n.1595-22_1595-9delinsAATGAGTGCTTTTT
XM_011542845.2:c.1331-22_1331-9delinsAATGAGTGCTTTTT	XP_011541147.1:n.1331-22_1331-9delinsAATGAGTGCTTTTT
XM_017017789.2:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_016873278.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_017017790.2:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_016873279.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_017017791.1:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_016873280.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XM_017017792.2:c.2639-22_2639-9delinsAATGAGTGCTTTTT	XP_016873281.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
XR_002957150.1:n.3372-22_3372-9delinsAATGAGTGCTTTTT
NM_001351834.2:c.2639-22_2639-9delinsAATGAGTGCTTTTT	NP_001338763.1:n.2639-22_2639-9delinsAATGAGTGCTTTTT
NM_000051.4:c.2639-22_2639-9delinsAATGAGTGCTTTTT MANE Select	NP_000042.3:n.2639-22_2639-9delinsAATGAGTGCTTTTT