Canonical Allele Identifier: CA2543128590

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302773_108302774del , CM000673.2:g.108302773_108302774del	GRCh38
NC_000011.9:g.108173500_108173501del , CM000673.1:g.108173500_108173501del	GRCh37
NC_000011.8:g.107678710_107678711del	NCBI36
NG_009830.1:g.84942_84943del , LRG_135:g.84942_84943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5320-80_5320-79del	ENSP00000388058.2:n.5320-80_5320-79del
ENST00000713593.1:c.*4791-80_*4791-79del	ENSP00000518889.1:n.*4791-80_*4791-79del
ENST00000278616.9:c.5320-80_5320-79del	ENSP00000278616.4:n.5320-80_5320-79del
ENST00000683174.1:n.6804-80_6804-79del
ENST00000683524.1:n.544-80_544-79del
ENST00000684152.1:n.1034-80_1034-79del
ENST00000527805.6:c.*384-80_*384-79del	ENSP00000435747.2:n.*384-80_*384-79del
ENST00000675595.1:c.*384-80_*384-79del	ENSP00000502563.1:n.*384-80_*384-79del
ENST00000675843.1:c.5320-80_5320-79del MANE Select	ENSP00000501606.1:n.5320-80_5320-79del
ENST00000278616.8:c.5320-80_5320-79del	ENSP00000278616.4:n.5320-80_5320-79del
ENST00000452508.6:c.5320-80_5320-79del	ENSP00000388058.2:n.5320-80_5320-79del
ENST00000524792.5:n.1535-80_1535-79del
ENST00000533690.5:n.724-80_724-79del
ENST00000534625.1:n.549-80_549-79del
NM_000051.3:c.5320-80_5320-79del , LRG_135t1:c.5320-80_5320-79del	NP_000042.3:n.5320-80_5320-79del
XM_005271561.3:c.5320-80_5320-79del	XP_005271618.2:n.5320-80_5320-79del
XM_005271562.3:c.5320-80_5320-79del	XP_005271619.2:n.5320-80_5320-79del
XM_006718843.2:c.5320-80_5320-79del	XP_006718906.1:n.5320-80_5320-79del
XM_006718845.1:c.1276-80_1276-79del	XP_006718908.1:n.1276-80_1276-79del
XM_011542840.1:c.5320-80_5320-79del	XP_011541142.1:n.5320-80_5320-79del
XM_011542841.1:c.5320-80_5320-79del	XP_011541143.1:n.5320-80_5320-79del
XM_011542842.1:c.5155-80_5155-79del	XP_011541144.1:n.5155-80_5155-79del
XM_011542843.1:c.5320-80_5320-79del	XP_011541145.1:n.5320-80_5320-79del
XM_011542844.1:c.4276-80_4276-79del	XP_011541146.1:n.4276-80_4276-79del
XM_011542845.1:c.4012-80_4012-79del	XP_011541147.1:n.4012-80_4012-79del
XM_011542846.1:c.5319-78_5319-77del	XP_011541148.1:n.5319-78_5319-77del
XM_011542847.1:c.391-80_391-79del	XP_011541149.1:n.391-80_391-79del
NM_001351834.1:c.5320-80_5320-79del	NP_001338763.1:n.5320-80_5320-79del
XM_005271562.5:c.5320-80_5320-79del	XP_005271619.2:n.5320-80_5320-79del
XM_006718843.4:c.5320-80_5320-79del	XP_006718906.1:n.5320-80_5320-79del
XM_006718845.2:c.1276-80_1276-79del	XP_006718908.1:n.1276-80_1276-79del
XM_011542840.3:c.5320-80_5320-79del	XP_011541142.1:n.5320-80_5320-79del
XM_011542842.3:c.5155-80_5155-79del	XP_011541144.1:n.5155-80_5155-79del
XM_011542843.2:c.5320-80_5320-79del	XP_011541145.1:n.5320-80_5320-79del
XM_011542844.3:c.4276-80_4276-79del	XP_011541146.1:n.4276-80_4276-79del
XM_011542845.2:c.4012-80_4012-79del	XP_011541147.1:n.4012-80_4012-79del
XM_017017789.2:c.5320-80_5320-79del	XP_016873278.1:n.5320-80_5320-79del
XM_017017790.2:c.5320-80_5320-79del	XP_016873279.1:n.5320-80_5320-79del
XM_017017791.1:c.5320-80_5320-79del	XP_016873280.1:n.5320-80_5320-79del
XM_017017792.2:c.*1-80_*1-79del	XP_016873281.1:n.*1-80_*1-79del
XR_002957150.1:n.5920-80_5920-79del
NM_001351834.2:c.5320-80_5320-79del	NP_001338763.1:n.5320-80_5320-79del
NM_000051.4:c.5320-80_5320-79del MANE Select	NP_000042.3:n.5320-80_5320-79del