Canonical Allele Identifier: CA1998775893

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108257517_108257524delinsTTTAAAAA , CM000673.2:g.108257517_108257524delinsTTTAAAAA	GRCh38
NC_000011.9:g.108128244_108128251delinsTTTAAAAA , CM000673.1:g.108128244_108128251delinsTTTAAAAA	GRCh37
NC_000011.8:g.107633454_107633461delinsTTTAAAAA	NCBI36
NG_009830.1:g.39686_39693delinsTTTAAAAA , LRG_135:g.39686_39693delinsTTTAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2287_2294delinsTTTAAAAA	ENSP00000388058.2:p.Phe763=
ENST00000713593.1:c.*1758_*1765delinsTTTAAAAA	ENSP00000518889.1:n.*1758_*1765delinsTTTAAAAA
ENST00000278616.9:c.2287_2294delinsTTTAAAAA	ENSP00000278616.4:p.Phe763=
ENST00000682516.1:n.2421_2428delinsTTTAAAAA
ENST00000683174.1:n.2437_2444delinsTTTAAAAA
ENST00000683605.1:n.1782_1789delinsTTTAAAAA
ENST00000684037.1:c.*1222_*1229delinsTTTAAAAA	ENSP00000508245.1:n.*1222_*1229delinsTTTAAAAA
ENST00000527805.6:c.2287_2294delinsTTTAAAAA	ENSP00000435747.2:p.Phe763=
ENST00000675595.1:c.2122_2129delinsTTTAAAAA	ENSP00000502563.1:p.Phe708=
ENST00000675843.1:c.2287_2294delinsTTTAAAAA MANE Select	ENSP00000501606.1:p.Phe763=
ENST00000278616.8:c.2287_2294delinsTTTAAAAA	ENSP00000278616.4:p.Phe763=
ENST00000452508.6:c.2287_2294delinsTTTAAAAA	ENSP00000388058.2:p.Phe763=
ENST00000527805.5:c.2287_2294delinsTTTAAAAA	ENSP00000435747.1:p.Phe763=
NM_000051.3:c.2287_2294delinsTTTAAAAA , LRG_135t1:c.2287_2294delinsTTTAAAAA	NP_000042.3:p.Phe763=
XM_005271561.3:c.2287_2294delinsTTTAAAAA	XP_005271618.2:p.Phe763=
XM_005271562.3:c.2287_2294delinsTTTAAAAA	XP_005271619.2:p.Phe763=
XM_006718843.2:c.2287_2294delinsTTTAAAAA	XP_006718906.1:p.Phe763=
XM_011542840.1:c.2287_2294delinsTTTAAAAA	XP_011541142.1:p.Phe763=
XM_011542841.1:c.2287_2294delinsTTTAAAAA	XP_011541143.1:p.Phe763=
XM_011542842.1:c.2122_2129delinsTTTAAAAA	XP_011541144.1:p.Phe708=
XM_011542843.1:c.2287_2294delinsTTTAAAAA	XP_011541145.1:p.Phe763=
XM_011542844.1:c.1243_1250delinsTTTAAAAA	XP_011541146.1:p.Phe415=
XM_011542845.1:c.979_986delinsTTTAAAAA	XP_011541147.1:p.Phe327=
XM_011542846.1:c.2287_2294delinsTTTAAAAA	XP_011541148.1:p.Phe763=
NM_001351834.1:c.2287_2294delinsTTTAAAAA	NP_001338763.1:p.Phe763=
XM_005271562.5:c.2287_2294delinsTTTAAAAA	XP_005271619.2:p.Phe763=
XM_006718843.4:c.2287_2294delinsTTTAAAAA	XP_006718906.1:p.Phe763=
XM_011542840.3:c.2287_2294delinsTTTAAAAA	XP_011541142.1:p.Phe763=
XM_011542842.3:c.2122_2129delinsTTTAAAAA	XP_011541144.1:p.Phe708=
XM_011542843.2:c.2287_2294delinsTTTAAAAA	XP_011541145.1:p.Phe763=
XM_011542844.3:c.1243_1250delinsTTTAAAAA	XP_011541146.1:p.Phe415=
XM_011542845.2:c.979_986delinsTTTAAAAA	XP_011541147.1:p.Phe327=
XM_017017789.2:c.2287_2294delinsTTTAAAAA	XP_016873278.1:p.Phe763=
XM_017017790.2:c.2287_2294delinsTTTAAAAA	XP_016873279.1:p.Phe763=
XM_017017791.1:c.2287_2294delinsTTTAAAAA	XP_016873280.1:p.Phe763=
XM_017017792.2:c.2287_2294delinsTTTAAAAA	XP_016873281.1:p.Phe763=
XR_002957150.1:n.3020_3027delinsTTTAAAAA
NM_001351834.2:c.2287_2294delinsTTTAAAAA	NP_001338763.1:p.Phe763=
NM_000051.4:c.2287_2294delinsTTTAAAAA MANE Select	NP_000042.3:p.Phe763=