Canonical Allele Identifier: CA1998811194

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332800_108332802delinsCAG , CM000673.2:g.108332800_108332802delinsCAG	GRCh38
NC_000011.9:g.108203527_108203529delinsCAG , CM000673.1:g.108203527_108203529delinsCAG	GRCh37
NC_000011.8:g.107708737_107708739delinsCAG	NCBI36
NG_009830.1:g.114969_114971delinsCAG , LRG_135:g.114969_114971delinsCAG
NG_054724.1:g.142031_142033delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7827_7829delinsCAG (ATM)	ENSP00000388058.2:p.Ile2609=
ENST00000713593.1:c.*7298_*7300delinsCAG (ATM)	ENSP00000518889.1:n.*7298_*7300delinsCAG
ENST00000278616.9:c.7827_7829delinsCAG (ATM)	ENSP00000278616.4:p.Ile2609=
ENST00000525056.2:n.2246_2248delinsCAG (ATM)
ENST00000525537.3:n.1508_1510delinsCAG (ATM)
ENST00000638786.2:n.625+763_625+765delinsCAG (ATM)
ENST00000682286.1:n.2584_2586delinsCAG (ATM)
ENST00000682302.1:n.2245_2247delinsCAG (ATM)
ENST00000683174.1:n.9311_9313delinsCAG (ATM)
ENST00000683524.1:n.3051_3053delinsCAG (ATM)
ENST00000684152.1:n.3344-1086_3344-1084delinsCAG (ATM)
ENST00000684180.1:n.301_303delinsCAG (ATM)
ENST00000684447.1:n.3335_3337delinsCAG (ATM)
ENST00000527805.6:c.*2891_*2893delinsCAG (ATM)	ENSP00000435747.2:n.*2891_*2893delinsCAG
ENST00000675595.1:c.*2962_*2964delinsCAG (ATM)	ENSP00000502563.1:n.*2962_*2964delinsCAG
ENST00000675843.1:c.7827_7829delinsCAG (ATM) MANE Select	ENSP00000501606.1:p.Ile2609=
ENST00000278616.8:c.7827_7829delinsCAG (ATM)	ENSP00000278616.4:p.Ile2609=
ENST00000452508.6:c.7827_7829delinsCAG (ATM)	ENSP00000388058.2:p.Ile2609=
ENST00000524755.5:c.300-1235_300-1233delinsCTG (C11orf65)
ENST00000524792.5:n.4042_4044delinsCAG (ATM)
ENST00000525056.1:n.24_26delinsCAG (ATM)
ENST00000525729.5:c.641-23731_641-23729delinsCTG (C11orf65)	ENSP00000433395.1:n.641-23731_641-23729delinsCTG
ENST00000527531.5:c.*1270-1235_*1270-1233delinsCTG (C11orf65)	ENSP00000431706.1:n.*1270-1235_*1270-1233delinsCTG
ENST00000533690.5:n.3231_3233delinsCAG (ATM)
ENST00000533979.5:n.39_41delinsCAG (ATM)
ENST00000615746.4:c.*1270-1235_*1270-1233delinsCTG (C11orf65)	ENSP00000483537.1:n.*1270-1235_*1270-1233delinsCTG
NM_000051.3:c.7827_7829delinsCAG , LRG_135t1:c.7827_7829delinsCAG (ATM)	NP_000042.3:p.Ile2609=
XM_005271414.3:c.*39-1235_*39-1233delinsCTG (C11orf65)	XP_005271471.1:n.*39-1235_*39-1233delinsCTG
XM_005271415.3:c.805-1235_805-1233delinsCTG (C11orf65)	XP_005271472.1:n.805-1235_805-1233delinsCTG
XM_005271561.3:c.7827_7829delinsCAG (ATM)	XP_005271618.2:p.Ile2609=
XM_005271562.3:c.7827_7829delinsCAG (ATM)	XP_005271619.2:p.Ile2609=
XM_006718843.2:c.7827_7829delinsCAG (ATM)	XP_006718906.1:p.Ile2609=
XM_006718845.1:c.3783_3785delinsCAG (ATM)	XP_006718908.1:p.Ile1261=
XM_011542840.1:c.7827_7829delinsCAG (ATM)	XP_011541142.1:p.Ile2609=
XM_011542841.1:c.7827_7829delinsCAG (ATM)	XP_011541143.1:p.Ile2609=
XM_011542842.1:c.7662_7664delinsCAG (ATM)	XP_011541144.1:p.Ile2554=
XM_011542843.1:c.7827_7829delinsCAG (ATM)	XP_011541145.1:p.Ile2609=
XM_011542844.1:c.6783_6785delinsCAG (ATM)	XP_011541146.1:p.Ile2261=
XM_011542845.1:c.6519_6521delinsCAG (ATM)	XP_011541147.1:p.Ile2173=
XM_011542847.1:c.2898_2900delinsCAG (ATM)	XP_011541149.1:p.Ile966=
NM_001330368.1:c.641-23731_641-23729delinsCTG (C11orf65)	NP_001317297.1:n.641-23731_641-23729delinsCTG
NM_001351110.1:c.*38+2418_*38+2420delinsCTG (C11orf65)	NP_001338039.1:n.*38+2418_*38+2420delinsCTG
NM_001351834.1:c.7827_7829delinsCAG (ATM)	NP_001338763.1:p.Ile2609=
NR_147053.2:n.2375-1235_2375-1233delinsCTG (C11orf65)
XM_005271414.4:c.*39-1235_*39-1233delinsCTG (C11orf65)	XP_005271471.1:n.*39-1235_*39-1233delinsCTG
XM_005271415.4:c.805-1235_805-1233delinsCTG (C11orf65)	XP_005271472.1:n.805-1235_805-1233delinsCTG
XM_005271562.5:c.7827_7829delinsCAG (ATM)	XP_005271619.2:p.Ile2609=
XM_006718843.4:c.7827_7829delinsCAG (ATM)	XP_006718906.1:p.Ile2609=
XM_006718845.2:c.3783_3785delinsCAG (ATM)	XP_006718908.1:p.Ile1261=
XM_011542840.3:c.7827_7829delinsCAG (ATM)	XP_011541142.1:p.Ile2609=
XM_011542842.3:c.7662_7664delinsCAG (ATM)	XP_011541144.1:p.Ile2554=
XM_011542843.2:c.7827_7829delinsCAG (ATM)	XP_011541145.1:p.Ile2609=
XM_011542844.3:c.6783_6785delinsCAG (ATM)	XP_011541146.1:p.Ile2261=
XM_011542845.2:c.6519_6521delinsCAG (ATM)	XP_011541147.1:p.Ile2173=
XM_017017789.2:c.7827_7829delinsCAG (ATM)	XP_016873278.1:p.Ile2609=
XM_017017790.2:c.7827_7829delinsCAG (ATM)	XP_016873279.1:p.Ile2609=
NM_001330368.2:c.641-23731_641-23729delinsCTG (C11orf65)	NP_001317297.1:n.641-23731_641-23729delinsCTG
NM_001351110.2:c.*38+2418_*38+2420delinsCTG (C11orf65)	NP_001338039.1:n.*38+2418_*38+2420delinsCTG
NM_001351834.2:c.7827_7829delinsCAG (ATM)	NP_001338763.1:p.Ile2609=
NM_000051.4:c.7827_7829delinsCAG (ATM) MANE Select	NP_000042.3:p.Ile2609=
NR_147053.3:n.2373-1235_2373-1233delinsCTG (C11orf65)