Canonical Allele Identifier: CA2505308848

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304755_108304756insTT , CM000673.2:g.108304755_108304756insTT	GRCh38
NC_000011.9:g.108175482_108175483insTT , CM000673.1:g.108175482_108175483insTT	GRCh37
NC_000011.8:g.107680692_107680693insTT	NCBI36
NG_009830.1:g.86924_86925insTT , LRG_135:g.86924_86925insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5577_5578insTT	ENSP00000388058.2:p.Asn1860LeufsTer?
ENST00000713593.1:c.*5048_*5049insTT	ENSP00000518889.1:n.*5048_*5049insTT
ENST00000278616.9:c.5577_5578insTT	ENSP00000278616.4:p.Asn1860LeufsTer?
ENST00000683174.1:n.7061_7062insTT
ENST00000683524.1:n.801_802insTT
ENST00000684152.1:n.1291_1292insTT
ENST00000527805.6:c.*641_*642insTT	ENSP00000435747.2:n.*641_*642insTT
ENST00000675595.1:c.*641_*642insTT	ENSP00000502563.1:n.*641_*642insTT
ENST00000675843.1:c.5577_5578insTT MANE Select	ENSP00000501606.1:p.Asn1860LeufsTer?
ENST00000278616.8:c.5577_5578insTT	ENSP00000278616.4:p.Asn1860LeufsTer?
ENST00000452508.6:c.5577_5578insTT	ENSP00000388058.2:p.Asn1860LeufsTer?
ENST00000524792.5:n.1792_1793insTT
ENST00000529588.5:c.89_90insTT
ENST00000533690.5:n.981_982insTT
NM_000051.3:c.5577_5578insTT , LRG_135t1:c.5577_5578insTT	NP_000042.3:p.Asn1860LeufsTer?
XM_005271561.3:c.5577_5578insTT	XP_005271618.2:p.Asn1860LeufsTer?
XM_005271562.3:c.5577_5578insTT	XP_005271619.2:p.Asn1860LeufsTer?
XM_006718843.2:c.5577_5578insTT	XP_006718906.1:p.Asn1860LeufsTer?
XM_006718845.1:c.1533_1534insTT	XP_006718908.1:p.Asn512LeufsTer?
XM_011542840.1:c.5577_5578insTT	XP_011541142.1:p.Asn1860LeufsTer?
XM_011542841.1:c.5577_5578insTT	XP_011541143.1:p.Asn1860LeufsTer?
XM_011542842.1:c.5412_5413insTT	XP_011541144.1:p.Asn1805LeufsTer?
XM_011542843.1:c.5577_5578insTT	XP_011541145.1:p.Asn1860LeufsTer?
XM_011542844.1:c.4533_4534insTT	XP_011541146.1:p.Asn1512LeufsTer?
XM_011542845.1:c.4269_4270insTT	XP_011541147.1:p.Asn1424LeufsTer?
XM_011542847.1:c.648_649insTT	XP_011541149.1:p.Asn217LeufsTer?
NM_001351834.1:c.5577_5578insTT	NP_001338763.1:p.Asn1860LeufsTer?
XM_005271562.5:c.5577_5578insTT	XP_005271619.2:p.Asn1860LeufsTer?
XM_006718843.4:c.5577_5578insTT	XP_006718906.1:p.Asn1860LeufsTer?
XM_006718845.2:c.1533_1534insTT	XP_006718908.1:p.Asn512LeufsTer?
XM_011542840.3:c.5577_5578insTT	XP_011541142.1:p.Asn1860LeufsTer?
XM_011542842.3:c.5412_5413insTT	XP_011541144.1:p.Asn1805LeufsTer?
XM_011542843.2:c.5577_5578insTT	XP_011541145.1:p.Asn1860LeufsTer?
XM_011542844.3:c.4533_4534insTT	XP_011541146.1:p.Asn1512LeufsTer?
XM_011542845.2:c.4269_4270insTT	XP_011541147.1:p.Asn1424LeufsTer?
XM_017017789.2:c.5577_5578insTT	XP_016873278.1:p.Asn1860LeufsTer?
XM_017017790.2:c.5577_5578insTT	XP_016873279.1:p.Asn1860LeufsTer?
XM_017017791.1:c.5577_5578insTT	XP_016873280.1:p.Asn1860LeufsTer?
XR_002957150.1:n.6177_6178insTT
NM_001351834.2:c.5577_5578insTT	NP_001338763.1:p.Asn1860LeufsTer?
NM_000051.4:c.5577_5578insTT MANE Select	NP_000042.3:p.Asn1860LeufsTer?