Canonical Allele Identifier: CA2570146429

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304751_108304752insA , CM000673.2:g.108304751_108304752insA	GRCh38
NC_000011.9:g.108175478_108175479insA , CM000673.1:g.108175478_108175479insA	GRCh37
NC_000011.8:g.107680688_107680689insA	NCBI36
NG_009830.1:g.86920_86921insA , LRG_135:g.86920_86921insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5573_5574insA	ENSP00000388058.2:p.Trp1858Ter
ENST00000713593.1:c.*5044_*5045insA	ENSP00000518889.1:n.*5044_*5045insA
ENST00000278616.9:c.5573_5574insA	ENSP00000278616.4:p.Trp1858Ter
ENST00000683174.1:n.7057_7058insA
ENST00000683524.1:n.797_798insA
ENST00000684152.1:n.1287_1288insA
ENST00000527805.6:c.*637_*638insA	ENSP00000435747.2:n.*637_*638insA
ENST00000675595.1:c.*637_*638insA	ENSP00000502563.1:n.*637_*638insA
ENST00000675843.1:c.5573_5574insA MANE Select	ENSP00000501606.1:p.Trp1858Ter
ENST00000278616.8:c.5573_5574insA	ENSP00000278616.4:p.Trp1858Ter
ENST00000452508.6:c.5573_5574insA	ENSP00000388058.2:p.Trp1858Ter
ENST00000524792.5:n.1788_1789insA
ENST00000529588.5:c.85_86insA
ENST00000533690.5:n.977_978insA
NM_000051.3:c.5573_5574insA , LRG_135t1:c.5573_5574insA	NP_000042.3:p.Trp1858Ter
XM_005271561.3:c.5573_5574insA	XP_005271618.2:p.Trp1858Ter
XM_005271562.3:c.5573_5574insA	XP_005271619.2:p.Trp1858Ter
XM_006718843.2:c.5573_5574insA	XP_006718906.1:p.Trp1858Ter
XM_006718845.1:c.1529_1530insA	XP_006718908.1:p.Trp510Ter
XM_011542840.1:c.5573_5574insA	XP_011541142.1:p.Trp1858Ter
XM_011542841.1:c.5573_5574insA	XP_011541143.1:p.Trp1858Ter
XM_011542842.1:c.5408_5409insA	XP_011541144.1:p.Trp1803Ter
XM_011542843.1:c.5573_5574insA	XP_011541145.1:p.Trp1858Ter
XM_011542844.1:c.4529_4530insA	XP_011541146.1:p.Trp1510Ter
XM_011542845.1:c.4265_4266insA	XP_011541147.1:p.Trp1422Ter
XM_011542847.1:c.644_645insA	XP_011541149.1:p.Trp215Ter
NM_001351834.1:c.5573_5574insA	NP_001338763.1:p.Trp1858Ter
XM_005271562.5:c.5573_5574insA	XP_005271619.2:p.Trp1858Ter
XM_006718843.4:c.5573_5574insA	XP_006718906.1:p.Trp1858Ter
XM_006718845.2:c.1529_1530insA	XP_006718908.1:p.Trp510Ter
XM_011542840.3:c.5573_5574insA	XP_011541142.1:p.Trp1858Ter
XM_011542842.3:c.5408_5409insA	XP_011541144.1:p.Trp1803Ter
XM_011542843.2:c.5573_5574insA	XP_011541145.1:p.Trp1858Ter
XM_011542844.3:c.4529_4530insA	XP_011541146.1:p.Trp1510Ter
XM_011542845.2:c.4265_4266insA	XP_011541147.1:p.Trp1422Ter
XM_017017789.2:c.5573_5574insA	XP_016873278.1:p.Trp1858Ter
XM_017017790.2:c.5573_5574insA	XP_016873279.1:p.Trp1858Ter
XM_017017791.1:c.5573_5574insA	XP_016873280.1:p.Trp1858Ter
XR_002957150.1:n.6173_6174insA
NM_001351834.2:c.5573_5574insA	NP_001338763.1:p.Trp1858Ter
NM_000051.4:c.5573_5574insA MANE Select	NP_000042.3:p.Trp1858Ter