Canonical Allele Identifier: CA1998801192

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304677_108304678delinsGA , CM000673.2:g.108304677_108304678delinsGA	GRCh38
NC_000011.9:g.108175404_108175405delinsGA , CM000673.1:g.108175404_108175405delinsGA	GRCh37
NC_000011.8:g.107680614_107680615delinsGA	NCBI36
NG_009830.1:g.86846_86847delinsGA , LRG_135:g.86846_86847delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5499_5500delinsGA	ENSP00000388058.2:p.Val1833=
ENST00000713593.1:c.*4970_*4971delinsGA	ENSP00000518889.1:n.*4970_*4971delinsGA
ENST00000278616.9:c.5499_5500delinsGA	ENSP00000278616.4:p.Val1833=
ENST00000683174.1:n.6983_6984delinsGA
ENST00000683524.1:n.723_724delinsGA
ENST00000684152.1:n.1213_1214delinsGA
ENST00000527805.6:c.*563_*564delinsGA	ENSP00000435747.2:n.*563_*564delinsGA
ENST00000675595.1:c.*563_*564delinsGA	ENSP00000502563.1:n.*563_*564delinsGA
ENST00000675843.1:c.5499_5500delinsGA MANE Select	ENSP00000501606.1:p.Val1833=
ENST00000278616.8:c.5499_5500delinsGA	ENSP00000278616.4:p.Val1833=
ENST00000452508.6:c.5499_5500delinsGA	ENSP00000388058.2:p.Val1833=
ENST00000524792.5:n.1714_1715delinsGA
ENST00000529588.5:c.11_12delinsGA
ENST00000533690.5:n.903_904delinsGA
NM_000051.3:c.5499_5500delinsGA , LRG_135t1:c.5499_5500delinsGA	NP_000042.3:p.Val1833=
XM_005271561.3:c.5499_5500delinsGA	XP_005271618.2:p.Val1833=
XM_005271562.3:c.5499_5500delinsGA	XP_005271619.2:p.Val1833=
XM_006718843.2:c.5499_5500delinsGA	XP_006718906.1:p.Val1833=
XM_006718845.1:c.1455_1456delinsGA	XP_006718908.1:p.Val485=
XM_011542840.1:c.5499_5500delinsGA	XP_011541142.1:p.Val1833=
XM_011542841.1:c.5499_5500delinsGA	XP_011541143.1:p.Val1833=
XM_011542842.1:c.5334_5335delinsGA	XP_011541144.1:p.Val1778=
XM_011542843.1:c.5499_5500delinsGA	XP_011541145.1:p.Val1833=
XM_011542844.1:c.4455_4456delinsGA	XP_011541146.1:p.Val1485=
XM_011542845.1:c.4191_4192delinsGA	XP_011541147.1:p.Val1397=
XM_011542847.1:c.570_571delinsGA	XP_011541149.1:p.Val190=
NM_001351834.1:c.5499_5500delinsGA	NP_001338763.1:p.Val1833=
XM_005271562.5:c.5499_5500delinsGA	XP_005271619.2:p.Val1833=
XM_006718843.4:c.5499_5500delinsGA	XP_006718906.1:p.Val1833=
XM_006718845.2:c.1455_1456delinsGA	XP_006718908.1:p.Val485=
XM_011542840.3:c.5499_5500delinsGA	XP_011541142.1:p.Val1833=
XM_011542842.3:c.5334_5335delinsGA	XP_011541144.1:p.Val1778=
XM_011542843.2:c.5499_5500delinsGA	XP_011541145.1:p.Val1833=
XM_011542844.3:c.4455_4456delinsGA	XP_011541146.1:p.Val1485=
XM_011542845.2:c.4191_4192delinsGA	XP_011541147.1:p.Val1397=
XM_017017789.2:c.5499_5500delinsGA	XP_016873278.1:p.Val1833=
XM_017017790.2:c.5499_5500delinsGA	XP_016873279.1:p.Val1833=
XM_017017791.1:c.5499_5500delinsGA	XP_016873280.1:p.Val1833=
XR_002957150.1:n.6099_6100delinsGA
NM_001351834.2:c.5499_5500delinsGA	NP_001338763.1:p.Val1833=
NM_000051.4:c.5499_5500delinsGA MANE Select	NP_000042.3:p.Val1833=