Canonical Allele Identifier: CA2580615063

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2573306
• ClinVar RCV Id: RCV003316995

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335012_108335051dup , CM000673.2:g.108335012_108335051dup	GRCh38
NC_000011.9:g.108205739_108205778dup , CM000673.1:g.108205739_108205778dup	GRCh37
NC_000011.8:g.107710949_107710988dup	NCBI36
NG_009830.1:g.117181_117220dup , LRG_135:g.117181_117220dup
NG_054724.1:g.139783_139822dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8054_8093dup (ATM)	ENSP00000388058.2:p.Leu2698PhefsTer3
ENST00000713593.1:c.*7525_*7564dup (ATM)	ENSP00000518889.1:n.*7525_*7564dup
ENST00000278616.9:c.8054_8093dup (ATM)	ENSP00000278616.4:p.Leu2698PhefsTer3
ENST00000525056.2:n.2473_2512dup (ATM)
ENST00000638786.2:n.752_791dup (ATM)
ENST00000682286.1:n.2811_2850dup (ATM)
ENST00000682302.1:n.2472_2511dup (ATM)
ENST00000683174.1:n.9538_9577dup (ATM)
ENST00000683524.1:n.3278_3317dup (ATM)
ENST00000684152.1:n.3470_3509dup (ATM)
ENST00000684180.1:n.528_567dup (ATM)
ENST00000684447.1:n.4547_4586dup (ATM)
ENST00000527805.6:c.*3118_*3157dup (ATM)	ENSP00000435747.2:n.*3118_*3157dup
ENST00000675595.1:c.*3189_*3228dup (ATM)	ENSP00000502563.1:n.*3189_*3228dup
ENST00000675843.1:c.8054_8093dup (ATM) MANE Select	ENSP00000501606.1:p.Leu2698PhefsTer3
ENST00000278616.8:c.8054_8093dup (ATM)	ENSP00000278616.4:p.Leu2698PhefsTer3
ENST00000452508.6:c.8054_8093dup (ATM)	ENSP00000388058.2:p.Leu2698PhefsTer3
ENST00000524755.5:c.299+170_299+209dup (C11orf65)
ENST00000524792.5:n.4269_4308dup (ATM)
ENST00000525056.1:n.251_290dup (ATM)
ENST00000525729.5:c.641-25979_641-25940dup (C11orf65)	ENSP00000433395.1:n.641-25979_641-25940dup
ENST00000527531.5:c.*1269+170_*1269+209dup (C11orf65)	ENSP00000431706.1:n.*1269+170_*1269+209dup
ENST00000533979.5:n.266_305dup (ATM)
ENST00000615746.4:c.*1269+170_*1269+209dup (C11orf65)	ENSP00000483537.1:n.*1269+170_*1269+209dup
NM_000051.3:c.8054_8093dup , LRG_135t1:c.8054_8093dup (ATM)	NP_000042.3:p.Leu2698PhefsTer3
XM_005271414.3:c.*38+170_*38+209dup (C11orf65)	XP_005271471.1:n.*38+170_*38+209dup
XM_005271415.3:c.804+170_804+209dup (C11orf65)	XP_005271472.1:n.804+170_804+209dup
XM_005271561.3:c.8054_8093dup (ATM)	XP_005271618.2:p.Leu2698PhefsTer3
XM_005271562.3:c.8054_8093dup (ATM)	XP_005271619.2:p.Leu2698PhefsTer3
XM_006718843.2:c.8054_8093dup (ATM)	XP_006718906.1:p.Leu2698PhefsTer3
XM_006718845.1:c.4010_4049dup (ATM)	XP_006718908.1:p.Leu1350PhefsTer3
XM_011542840.1:c.8054_8093dup (ATM)	XP_011541142.1:p.Leu2698PhefsTer3
XM_011542841.1:c.8054_8093dup (ATM)	XP_011541143.1:p.Leu2698PhefsTer3
XM_011542842.1:c.7889_7928dup (ATM)	XP_011541144.1:p.Leu2643PhefsTer3
XM_011542843.1:c.8054_8093dup (ATM)	XP_011541145.1:p.Leu2698PhefsTer3
XM_011542844.1:c.7010_7049dup (ATM)	XP_011541146.1:p.Leu2350PhefsTer3
XM_011542845.1:c.6746_6785dup (ATM)	XP_011541147.1:p.Leu2262PhefsTer3
XM_011542847.1:c.3125_3164dup (ATM)	XP_011541149.1:p.Leu1055PhefsTer3
NM_001330368.1:c.641-25979_641-25940dup (C11orf65)	NP_001317297.1:n.641-25979_641-25940dup
NM_001351110.1:c.*38+170_*38+209dup (C11orf65)	NP_001338039.1:n.*38+170_*38+209dup
NM_001351834.1:c.8054_8093dup (ATM)	NP_001338763.1:p.Leu2698PhefsTer3
NR_147053.2:n.2374+170_2374+209dup (C11orf65)
XM_005271414.4:c.*38+170_*38+209dup (C11orf65)	XP_005271471.1:n.*38+170_*38+209dup
XM_005271415.4:c.804+170_804+209dup (C11orf65)	XP_005271472.1:n.804+170_804+209dup
XM_005271562.5:c.8054_8093dup (ATM)	XP_005271619.2:p.Leu2698PhefsTer3
XM_006718843.4:c.8054_8093dup (ATM)	XP_006718906.1:p.Leu2698PhefsTer3
XM_006718845.2:c.4010_4049dup (ATM)	XP_006718908.1:p.Leu1350PhefsTer3
XM_011542840.3:c.8054_8093dup (ATM)	XP_011541142.1:p.Leu2698PhefsTer3
XM_011542842.3:c.7889_7928dup (ATM)	XP_011541144.1:p.Leu2643PhefsTer3
XM_011542843.2:c.8054_8093dup (ATM)	XP_011541145.1:p.Leu2698PhefsTer3
XM_011542844.3:c.7010_7049dup (ATM)	XP_011541146.1:p.Leu2350PhefsTer3
XM_011542845.2:c.6746_6785dup (ATM)	XP_011541147.1:p.Leu2262PhefsTer3
XM_017017789.2:c.8054_8093dup (ATM)	XP_016873278.1:p.Leu2698PhefsTer3
XM_017017790.2:c.8054_8093dup (ATM)	XP_016873279.1:p.Leu2698PhefsTer3
NM_001330368.2:c.641-25979_641-25940dup (C11orf65)	NP_001317297.1:n.641-25979_641-25940dup
NM_001351110.2:c.*38+170_*38+209dup (C11orf65)	NP_001338039.1:n.*38+170_*38+209dup
NM_001351834.2:c.8054_8093dup (ATM)	NP_001338763.1:p.Leu2698PhefsTer3
NM_000051.4:c.8054_8093dup (ATM) MANE Select	NP_000042.3:p.Leu2698PhefsTer3
NR_147053.3:n.2372+170_2372+209dup (C11orf65)