Canonical Allele Identifier: CA1998811089

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332768_108332769delinsAC , CM000673.2:g.108332768_108332769delinsAC	GRCh38
NC_000011.9:g.108203495_108203496delinsAC , CM000673.1:g.108203495_108203496delinsAC	GRCh37
NC_000011.8:g.107708705_107708706delinsAC	NCBI36
NG_009830.1:g.114937_114938delinsAC , LRG_135:g.114937_114938delinsAC
NG_054724.1:g.142064_142065delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7795_7796delinsAC (ATM)	ENSP00000388058.2:p.Thr2599=
ENST00000713593.1:c.*7266_*7267delinsAC (ATM)	ENSP00000518889.1:n.*7266_*7267delinsAC
ENST00000278616.9:c.7795_7796delinsAC (ATM)	ENSP00000278616.4:p.Thr2599=
ENST00000525056.2:n.2214_2215delinsAC (ATM)
ENST00000525537.3:n.1476_1477delinsAC (ATM)
ENST00000638786.2:n.625+731_625+732delinsAC (ATM)
ENST00000682286.1:n.2552_2553delinsAC (ATM)
ENST00000682302.1:n.2213_2214delinsAC (ATM)
ENST00000683174.1:n.9279_9280delinsAC (ATM)
ENST00000683524.1:n.3019_3020delinsAC (ATM)
ENST00000684152.1:n.3344-1118_3344-1117delinsAC (ATM)
ENST00000684180.1:n.269_270delinsAC (ATM)
ENST00000684447.1:n.3303_3304delinsAC (ATM)
ENST00000527805.6:c.*2859_*2860delinsAC (ATM)	ENSP00000435747.2:n.*2859_*2860delinsAC
ENST00000675595.1:c.*2930_*2931delinsAC (ATM)	ENSP00000502563.1:n.*2930_*2931delinsAC
ENST00000675843.1:c.7795_7796delinsAC (ATM) MANE Select	ENSP00000501606.1:p.Thr2599=
ENST00000278616.8:c.7795_7796delinsAC (ATM)	ENSP00000278616.4:p.Thr2599=
ENST00000452508.6:c.7795_7796delinsAC (ATM)	ENSP00000388058.2:p.Thr2599=
ENST00000524755.5:c.300-1202_300-1201delinsGT (C11orf65)
ENST00000524792.5:n.4010_4011delinsAC (ATM)
ENST00000525729.5:c.641-23698_641-23697delinsGT (C11orf65)	ENSP00000433395.1:n.641-23698_641-23697delinsGT
ENST00000527531.5:c.*1270-1202_*1270-1201delinsGT (C11orf65)	ENSP00000431706.1:n.*1270-1202_*1270-1201delinsGT
ENST00000533690.5:n.3199_3200delinsAC (ATM)
ENST00000533979.5:n.7_8delinsAC (ATM)
ENST00000615746.4:c.*1270-1202_*1270-1201delinsGT (C11orf65)	ENSP00000483537.1:n.*1270-1202_*1270-1201delinsGT
NM_000051.3:c.7795_7796delinsAC , LRG_135t1:c.7795_7796delinsAC (ATM)	NP_000042.3:p.Thr2599=
XM_005271414.3:c.*39-1202_*39-1201delinsGT (C11orf65)	XP_005271471.1:n.*39-1202_*39-1201delinsGT
XM_005271415.3:c.805-1202_805-1201delinsGT (C11orf65)	XP_005271472.1:n.805-1202_805-1201delinsGT
XM_005271561.3:c.7795_7796delinsAC (ATM)	XP_005271618.2:p.Thr2599=
XM_005271562.3:c.7795_7796delinsAC (ATM)	XP_005271619.2:p.Thr2599=
XM_006718843.2:c.7795_7796delinsAC (ATM)	XP_006718906.1:p.Thr2599=
XM_006718845.1:c.3751_3752delinsAC (ATM)	XP_006718908.1:p.Thr1251=
XM_011542840.1:c.7795_7796delinsAC (ATM)	XP_011541142.1:p.Thr2599=
XM_011542841.1:c.7795_7796delinsAC (ATM)	XP_011541143.1:p.Thr2599=
XM_011542842.1:c.7630_7631delinsAC (ATM)	XP_011541144.1:p.Thr2544=
XM_011542843.1:c.7795_7796delinsAC (ATM)	XP_011541145.1:p.Thr2599=
XM_011542844.1:c.6751_6752delinsAC (ATM)	XP_011541146.1:p.Thr2251=
XM_011542845.1:c.6487_6488delinsAC (ATM)	XP_011541147.1:p.Thr2163=
XM_011542847.1:c.2866_2867delinsAC (ATM)	XP_011541149.1:p.Thr956=
NM_001330368.1:c.641-23698_641-23697delinsGT (C11orf65)	NP_001317297.1:n.641-23698_641-23697delinsGT
NM_001351110.1:c.*38+2451_*38+2452delinsGT (C11orf65)	NP_001338039.1:n.*38+2451_*38+2452delinsGT
NM_001351834.1:c.7795_7796delinsAC (ATM)	NP_001338763.1:p.Thr2599=
NR_147053.2:n.2375-1202_2375-1201delinsGT (C11orf65)
XM_005271414.4:c.*39-1202_*39-1201delinsGT (C11orf65)	XP_005271471.1:n.*39-1202_*39-1201delinsGT
XM_005271415.4:c.805-1202_805-1201delinsGT (C11orf65)	XP_005271472.1:n.805-1202_805-1201delinsGT
XM_005271562.5:c.7795_7796delinsAC (ATM)	XP_005271619.2:p.Thr2599=
XM_006718843.4:c.7795_7796delinsAC (ATM)	XP_006718906.1:p.Thr2599=
XM_006718845.2:c.3751_3752delinsAC (ATM)	XP_006718908.1:p.Thr1251=
XM_011542840.3:c.7795_7796delinsAC (ATM)	XP_011541142.1:p.Thr2599=
XM_011542842.3:c.7630_7631delinsAC (ATM)	XP_011541144.1:p.Thr2544=
XM_011542843.2:c.7795_7796delinsAC (ATM)	XP_011541145.1:p.Thr2599=
XM_011542844.3:c.6751_6752delinsAC (ATM)	XP_011541146.1:p.Thr2251=
XM_011542845.2:c.6487_6488delinsAC (ATM)	XP_011541147.1:p.Thr2163=
XM_017017789.2:c.7795_7796delinsAC (ATM)	XP_016873278.1:p.Thr2599=
XM_017017790.2:c.7795_7796delinsAC (ATM)	XP_016873279.1:p.Thr2599=
NM_001330368.2:c.641-23698_641-23697delinsGT (C11orf65)	NP_001317297.1:n.641-23698_641-23697delinsGT
NM_001351110.2:c.*38+2451_*38+2452delinsGT (C11orf65)	NP_001338039.1:n.*38+2451_*38+2452delinsGT
NM_001351834.2:c.7795_7796delinsAC (ATM)	NP_001338763.1:p.Thr2599=
NM_000051.4:c.7795_7796delinsAC (ATM) MANE Select	NP_000042.3:p.Thr2599=
NR_147053.3:n.2373-1202_2373-1201delinsGT (C11orf65)