Canonical Allele Identifier: CA2793549519

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108317426_108317430dup , CM000673.2:g.108317426_108317430dup	GRCh38
NC_000011.9:g.108188153_108188157dup , CM000673.1:g.108188153_108188157dup	GRCh37
NC_000011.8:g.107693363_107693367dup	NCBI36
NG_009830.1:g.99595_99599dup , LRG_135:g.99595_99599dup
NG_054724.1:g.157408_157412dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6252_6256dup (ATM)	ENSP00000388058.2:p.Tyr2086TrpfsTer12
ENST00000713593.1:c.*5723_*5727dup (ATM)	ENSP00000518889.1:n.*5723_*5727dup
ENST00000278616.9:c.6252_6256dup (ATM)	ENSP00000278616.4:p.Tyr2086TrpfsTer12
ENST00000525056.2:n.671_675dup (ATM)
ENST00000682286.1:n.1009_1013dup (ATM)
ENST00000682302.1:n.670_674dup (ATM)
ENST00000683174.1:n.7736_7740dup (ATM)
ENST00000683524.1:n.1476_1480dup (ATM)
ENST00000684152.1:n.1966_1970dup (ATM)
ENST00000527805.6:c.*1316_*1320dup (ATM)	ENSP00000435747.2:n.*1316_*1320dup
ENST00000675595.1:c.*1316_*1320dup (ATM)	ENSP00000502563.1:n.*1316_*1320dup
ENST00000675843.1:c.6252_6256dup (ATM) MANE Select	ENSP00000501606.1:p.Tyr2086TrpfsTer12
ENST00000278616.8:c.6252_6256dup (ATM)	ENSP00000278616.4:p.Tyr2086TrpfsTer12
ENST00000452508.6:c.6252_6256dup (ATM)	ENSP00000388058.2:p.Tyr2086TrpfsTer12
ENST00000524792.5:n.2467_2471dup (ATM)
ENST00000525729.5:c.641-8354_641-8350dup (C11orf65)	ENSP00000433395.1:n.641-8354_641-8350dup
ENST00000532765.1:n.569_573dup (ATM)
ENST00000533690.5:n.1656_1660dup (ATM)
NM_000051.3:c.6252_6256dup , LRG_135t1:c.6252_6256dup (ATM)	NP_000042.3:p.Tyr2086TrpfsTer12
XM_005271561.3:c.6252_6256dup (ATM)	XP_005271618.2:p.Tyr2086TrpfsTer12
XM_005271562.3:c.6252_6256dup (ATM)	XP_005271619.2:p.Tyr2086TrpfsTer12
XM_006718843.2:c.6252_6256dup (ATM)	XP_006718906.1:p.Tyr2086TrpfsTer12
XM_006718845.1:c.2208_2212dup (ATM)	XP_006718908.1:p.Tyr738TrpfsTer12
XM_011542840.1:c.6252_6256dup (ATM)	XP_011541142.1:p.Tyr2086TrpfsTer12
XM_011542841.1:c.6252_6256dup (ATM)	XP_011541143.1:p.Tyr2086TrpfsTer12
XM_011542842.1:c.6087_6091dup (ATM)	XP_011541144.1:p.Tyr2031TrpfsTer12
XM_011542843.1:c.6252_6256dup (ATM)	XP_011541145.1:p.Tyr2086TrpfsTer12
XM_011542844.1:c.5208_5212dup (ATM)	XP_011541146.1:p.Tyr1738TrpfsTer12
XM_011542845.1:c.4944_4948dup (ATM)	XP_011541147.1:p.Tyr1650TrpfsTer12
XM_011542847.1:c.1323_1327dup (ATM)	XP_011541149.1:p.Tyr443TrpfsTer12
NM_001330368.1:c.641-8354_641-8350dup (C11orf65)	NP_001317297.1:n.641-8354_641-8350dup
NM_001351110.1:c.*39-8354_*39-8350dup (C11orf65)	NP_001338039.1:n.*39-8354_*39-8350dup
NM_001351834.1:c.6252_6256dup (ATM)	NP_001338763.1:p.Tyr2086TrpfsTer12
XM_005271562.5:c.6252_6256dup (ATM)	XP_005271619.2:p.Tyr2086TrpfsTer12
XM_006718843.4:c.6252_6256dup (ATM)	XP_006718906.1:p.Tyr2086TrpfsTer12
XM_006718845.2:c.2208_2212dup (ATM)	XP_006718908.1:p.Tyr738TrpfsTer12
XM_011542840.3:c.6252_6256dup (ATM)	XP_011541142.1:p.Tyr2086TrpfsTer12
XM_011542842.3:c.6087_6091dup (ATM)	XP_011541144.1:p.Tyr2031TrpfsTer12
XM_011542843.2:c.6252_6256dup (ATM)	XP_011541145.1:p.Tyr2086TrpfsTer12
XM_011542844.3:c.5208_5212dup (ATM)	XP_011541146.1:p.Tyr1738TrpfsTer12
XM_011542845.2:c.4944_4948dup (ATM)	XP_011541147.1:p.Tyr1650TrpfsTer12
XM_017017789.2:c.6252_6256dup (ATM)	XP_016873278.1:p.Tyr2086TrpfsTer12
XM_017017790.2:c.6252_6256dup (ATM)	XP_016873279.1:p.Tyr2086TrpfsTer12
XM_017017791.1:c.6252_6256dup (ATM)	XP_016873280.1:p.Tyr2086TrpfsTer12
NM_001330368.2:c.641-8354_641-8350dup (C11orf65)	NP_001317297.1:n.641-8354_641-8350dup
NM_001351110.2:c.*39-8354_*39-8350dup (C11orf65)	NP_001338039.1:n.*39-8354_*39-8350dup
NM_001351834.2:c.6252_6256dup (ATM)	NP_001338763.1:p.Tyr2086TrpfsTer12
NM_000051.4:c.6252_6256dup (ATM) MANE Select	NP_000042.3:p.Tyr2086TrpfsTer12