Canonical Allele Identifier: CA1998809558

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331364_108331369delinsTTAAAA , CM000673.2:g.108331364_108331369delinsTTAAAA	GRCh38
NC_000011.9:g.108202091_108202096delinsTTAAAA , CM000673.1:g.108202091_108202096delinsTTAAAA	GRCh37
NC_000011.8:g.107707301_107707306delinsTTAAAA	NCBI36
NG_009830.1:g.113533_113538delinsTTAAAA , LRG_135:g.113533_113538delinsTTAAAA
NG_054724.1:g.143464_143469delinsTTTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7516-80_7516-75delinsTTAAAA (ATM)	ENSP00000388058.2:n.7516-80_7516-75delinsTTAAAA
ENST00000713593.1:c.*6987-80_*6987-75delinsTTAAAA (ATM)	ENSP00000518889.1:n.*6987-80_*6987-75delinsTTAAAA
ENST00000278616.9:c.7516-80_7516-75delinsTTAAAA (ATM)	ENSP00000278616.4:n.7516-80_7516-75delinsTTAAAA
ENST00000525056.2:n.1935-80_1935-75delinsTTAAAA (ATM)
ENST00000525537.3:n.473-80_473-75delinsTTAAAA (ATM)
ENST00000638786.2:n.353-80_353-75delinsTTAAAA (ATM)
ENST00000682286.1:n.2273-80_2273-75delinsTTAAAA (ATM)
ENST00000682302.1:n.1934-80_1934-75delinsTTAAAA (ATM)
ENST00000683174.1:n.9000-80_9000-75delinsTTAAAA (ATM)
ENST00000683524.1:n.2740-80_2740-75delinsTTAAAA (ATM)
ENST00000684152.1:n.3230-80_3230-75delinsTTAAAA (ATM)
ENST00000684447.1:n.1979-80_1979-75delinsTTAAAA (ATM)
ENST00000527805.6:c.*2580-80_*2580-75delinsTTAAAA (ATM)	ENSP00000435747.2:n.*2580-80_*2580-75delinsTTAAAA
ENST00000675595.1:c.*2651-80_*2651-75delinsTTAAAA (ATM)	ENSP00000502563.1:n.*2651-80_*2651-75delinsTTAAAA
ENST00000675843.1:c.7516-80_7516-75delinsTTAAAA (ATM) MANE Select	ENSP00000501606.1:n.7516-80_7516-75delinsTTAAAA
ENST00000278616.8:c.7516-80_7516-75delinsTTAAAA (ATM)	ENSP00000278616.4:n.7516-80_7516-75delinsTTAAAA
ENST00000452508.6:c.7516-80_7516-75delinsTTAAAA (ATM)	ENSP00000388058.2:n.7516-80_7516-75delinsTTAAAA
ENST00000524792.5:n.3731-80_3731-75delinsTTAAAA (ATM)
ENST00000525729.5:c.641-22298_641-22293delinsTTTTAA (C11orf65)	ENSP00000433395.1:n.641-22298_641-22293delinsTTTTAA
ENST00000527531.5:c.*1468_*1473delinsTTTTAA (C11orf65)	ENSP00000431706.1:n.*1468_*1473delinsTTTTAA
ENST00000533690.5:n.2920-80_2920-75delinsTTAAAA (ATM)
ENST00000615746.4:c.*1468_*1473delinsTTTTAA (C11orf65)	ENSP00000483537.1:n.*1468_*1473delinsTTTTAA
NM_000051.3:c.7516-80_7516-75delinsTTAAAA , LRG_135t1:c.7516-80_7516-75delinsTTAAAA (ATM)	NP_000042.3:n.7516-80_7516-75delinsTTAAAA
XM_005271561.3:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_005271618.2:n.7516-80_7516-75delinsTTAAAA
XM_005271562.3:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_005271619.2:n.7516-80_7516-75delinsTTAAAA
XM_006718843.2:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_006718906.1:n.7516-80_7516-75delinsTTAAAA
XM_006718845.1:c.3472-80_3472-75delinsTTAAAA (ATM)	XP_006718908.1:n.3472-80_3472-75delinsTTAAAA
XM_011542840.1:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_011541142.1:n.7516-80_7516-75delinsTTAAAA
XM_011542841.1:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_011541143.1:n.7516-80_7516-75delinsTTAAAA
XM_011542842.1:c.7351-80_7351-75delinsTTAAAA (ATM)	XP_011541144.1:n.7351-80_7351-75delinsTTAAAA
XM_011542843.1:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_011541145.1:n.7516-80_7516-75delinsTTAAAA
XM_011542844.1:c.6472-80_6472-75delinsTTAAAA (ATM)	XP_011541146.1:n.6472-80_6472-75delinsTTAAAA
XM_011542845.1:c.6208-80_6208-75delinsTTAAAA (ATM)	XP_011541147.1:n.6208-80_6208-75delinsTTAAAA
XM_011542847.1:c.2587-80_2587-75delinsTTAAAA (ATM)	XP_011541149.1:n.2587-80_2587-75delinsTTAAAA
NM_001330368.1:c.641-22298_641-22293delinsTTTTAA (C11orf65)	NP_001317297.1:n.641-22298_641-22293delinsTTTTAA
NM_001351110.1:c.*38+3851_*38+3856delinsTTTTAA (C11orf65)	NP_001338039.1:n.*38+3851_*38+3856delinsTTTTAA
NM_001351834.1:c.7516-80_7516-75delinsTTAAAA (ATM)	NP_001338763.1:n.7516-80_7516-75delinsTTAAAA
NR_147053.2:n.2573_2578delinsTTTTAA (C11orf65)
XM_005271414.4:c.*237_*242delinsTTTTAA (C11orf65)	XP_005271471.1:n.*237_*242delinsTTTTAA
XM_005271415.4:c.*181_*186delinsTTTTAA (C11orf65)	XP_005271472.1:n.*181_*186delinsTTTTAA
XM_005271562.5:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_005271619.2:n.7516-80_7516-75delinsTTAAAA
XM_006718843.4:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_006718906.1:n.7516-80_7516-75delinsTTAAAA
XM_006718845.2:c.3472-80_3472-75delinsTTAAAA (ATM)	XP_006718908.1:n.3472-80_3472-75delinsTTAAAA
XM_011542840.3:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_011541142.1:n.7516-80_7516-75delinsTTAAAA
XM_011542842.3:c.7351-80_7351-75delinsTTAAAA (ATM)	XP_011541144.1:n.7351-80_7351-75delinsTTAAAA
XM_011542843.2:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_011541145.1:n.7516-80_7516-75delinsTTAAAA
XM_011542844.3:c.6472-80_6472-75delinsTTAAAA (ATM)	XP_011541146.1:n.6472-80_6472-75delinsTTAAAA
XM_011542845.2:c.6208-80_6208-75delinsTTAAAA (ATM)	XP_011541147.1:n.6208-80_6208-75delinsTTAAAA
XM_017017789.2:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_016873278.1:n.7516-80_7516-75delinsTTAAAA
XM_017017790.2:c.7516-80_7516-75delinsTTAAAA (ATM)	XP_016873279.1:n.7516-80_7516-75delinsTTAAAA
NM_001330368.2:c.641-22298_641-22293delinsTTTTAA (C11orf65)	NP_001317297.1:n.641-22298_641-22293delinsTTTTAA
NM_001351110.2:c.*38+3851_*38+3856delinsTTTTAA (C11orf65)	NP_001338039.1:n.*38+3851_*38+3856delinsTTTTAA
NM_001351834.2:c.7516-80_7516-75delinsTTAAAA (ATM)	NP_001338763.1:n.7516-80_7516-75delinsTTAAAA
NM_000051.4:c.7516-80_7516-75delinsTTAAAA (ATM) MANE Select	NP_000042.3:n.7516-80_7516-75delinsTTAAAA
NR_147053.3:n.2571_2576delinsTTTTAA (C11orf65)