Canonical Allele Identifier: CA2695215402

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310187_108310188insCC , CM000673.2:g.108310187_108310188insCC	GRCh38
NC_000011.9:g.108180914_108180915insCC , CM000673.1:g.108180914_108180915insCC	GRCh37
NC_000011.8:g.107686124_107686125insCC	NCBI36
NG_009830.1:g.92356_92357insCC , LRG_135:g.92356_92357insCC
NG_054724.1:g.164645_164646insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5790_5791insCC (ATM)	ENSP00000388058.2:p.Ala1931ProfsTer7
ENST00000713593.1:c.*5261_*5262insCC (ATM)	ENSP00000518889.1:n.*5261_*5262insCC
ENST00000278616.9:c.5790_5791insCC (ATM)	ENSP00000278616.4:p.Ala1931ProfsTer7
ENST00000525056.2:n.209_210insCC (ATM)
ENST00000682286.1:n.547_548insCC (ATM)
ENST00000682302.1:n.208_209insCC (ATM)
ENST00000683174.1:n.7274_7275insCC (ATM)
ENST00000683524.1:n.1014_1015insCC (ATM)
ENST00000684152.1:n.1504_1505insCC (ATM)
ENST00000527805.6:c.*854_*855insCC (ATM)	ENSP00000435747.2:n.*854_*855insCC
ENST00000675595.1:c.*854_*855insCC (ATM)	ENSP00000502563.1:n.*854_*855insCC
ENST00000675843.1:c.5790_5791insCC (ATM) MANE Select	ENSP00000501606.1:p.Ala1931ProfsTer7
ENST00000278616.8:c.5790_5791insCC (ATM)	ENSP00000278616.4:p.Ala1931ProfsTer7
ENST00000452508.6:c.5790_5791insCC (ATM)	ENSP00000388058.2:p.Ala1931ProfsTer7
ENST00000524792.5:n.2005_2006insCC (ATM)
ENST00000525729.5:c.641-1117_641-1116insGG (C11orf65)	ENSP00000433395.1:n.641-1117_641-1116insGG
ENST00000529588.5:c.214_215insCC (ATM)
ENST00000532765.1:n.107_108insCC (ATM)
ENST00000533690.5:n.1194_1195insCC (ATM)
NM_000051.3:c.5790_5791insCC , LRG_135t1:c.5790_5791insCC (ATM)	NP_000042.3:p.Ala1931ProfsTer7
XM_005271561.3:c.5790_5791insCC (ATM)	XP_005271618.2:p.Ala1931ProfsTer7
XM_005271562.3:c.5790_5791insCC (ATM)	XP_005271619.2:p.Ala1931ProfsTer7
XM_006718843.2:c.5790_5791insCC (ATM)	XP_006718906.1:p.Ala1931ProfsTer7
XM_006718845.1:c.1746_1747insCC (ATM)	XP_006718908.1:p.Ala583ProfsTer7
XM_011542840.1:c.5790_5791insCC (ATM)	XP_011541142.1:p.Ala1931ProfsTer7
XM_011542841.1:c.5790_5791insCC (ATM)	XP_011541143.1:p.Ala1931ProfsTer7
XM_011542842.1:c.5625_5626insCC (ATM)	XP_011541144.1:p.Ala1876ProfsTer7
XM_011542843.1:c.5790_5791insCC (ATM)	XP_011541145.1:p.Ala1931ProfsTer7
XM_011542844.1:c.4746_4747insCC (ATM)	XP_011541146.1:p.Ala1583ProfsTer7
XM_011542845.1:c.4482_4483insCC (ATM)	XP_011541147.1:p.Ala1495ProfsTer7
XM_011542847.1:c.861_862insCC (ATM)	XP_011541149.1:p.Ala288ProfsTer7
NM_001330368.1:c.641-1117_641-1116insGG (C11orf65)	NP_001317297.1:n.641-1117_641-1116insGG
NM_001351110.1:c.*39-1117_*39-1116insGG (C11orf65)	NP_001338039.1:n.*39-1117_*39-1116insGG
NM_001351834.1:c.5790_5791insCC (ATM)	NP_001338763.1:p.Ala1931ProfsTer7
XM_005271562.5:c.5790_5791insCC (ATM)	XP_005271619.2:p.Ala1931ProfsTer7
XM_006718843.4:c.5790_5791insCC (ATM)	XP_006718906.1:p.Ala1931ProfsTer7
XM_006718845.2:c.1746_1747insCC (ATM)	XP_006718908.1:p.Ala583ProfsTer7
XM_011542840.3:c.5790_5791insCC (ATM)	XP_011541142.1:p.Ala1931ProfsTer7
XM_011542842.3:c.5625_5626insCC (ATM)	XP_011541144.1:p.Ala1876ProfsTer7
XM_011542843.2:c.5790_5791insCC (ATM)	XP_011541145.1:p.Ala1931ProfsTer7
XM_011542844.3:c.4746_4747insCC (ATM)	XP_011541146.1:p.Ala1583ProfsTer7
XM_011542845.2:c.4482_4483insCC (ATM)	XP_011541147.1:p.Ala1495ProfsTer7
XM_017017789.2:c.5790_5791insCC (ATM)	XP_016873278.1:p.Ala1931ProfsTer7
XM_017017790.2:c.5790_5791insCC (ATM)	XP_016873279.1:p.Ala1931ProfsTer7
XM_017017791.1:c.5790_5791insCC (ATM)	XP_016873280.1:p.Ala1931ProfsTer7
XR_002957150.1:n.6390_6391insCC (ATM)
NM_001330368.2:c.641-1117_641-1116insGG (C11orf65)	NP_001317297.1:n.641-1117_641-1116insGG
NM_001351110.2:c.*39-1117_*39-1116insGG (C11orf65)	NP_001338039.1:n.*39-1117_*39-1116insGG
NM_001351834.2:c.5790_5791insCC (ATM)	NP_001338763.1:p.Ala1931ProfsTer7
NM_000051.4:c.5790_5791insCC (ATM) MANE Select	NP_000042.3:p.Ala1931ProfsTer7