Canonical Allele Identifier: CA2580083072

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2126906
• ClinVar RCV Id: RCV003051897

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335097_108335100dup , CM000673.2:g.108335097_108335100dup	GRCh38
NC_000011.9:g.108205824_108205827dup , CM000673.1:g.108205824_108205827dup	GRCh37
NC_000011.8:g.107711034_107711037dup	NCBI36
NG_009830.1:g.117266_117269dup , LRG_135:g.117266_117269dup
NG_054724.1:g.139735_139738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8139_8142dup (ATM)	ENSP00000388058.2:p.Leu2715ThrfsTer4
ENST00000713593.1:c.*7610_*7613dup (ATM)	ENSP00000518889.1:n.*7610_*7613dup
ENST00000278616.9:c.8139_8142dup (ATM)	ENSP00000278616.4:p.Leu2715ThrfsTer4
ENST00000525056.2:n.2558_2561dup (ATM)
ENST00000638786.2:n.837_840dup (ATM)
ENST00000682286.1:n.2896_2899dup (ATM)
ENST00000682302.1:n.2557_2560dup (ATM)
ENST00000683174.1:n.9623_9626dup (ATM)
ENST00000683524.1:n.3363_3366dup (ATM)
ENST00000684152.1:n.3555_3558dup (ATM)
ENST00000684180.1:n.613_616dup (ATM)
ENST00000684447.1:n.4632_4635dup (ATM)
ENST00000527805.6:c.*3203_*3206dup (ATM)	ENSP00000435747.2:n.*3203_*3206dup
ENST00000675595.1:c.*3274_*3277dup (ATM)	ENSP00000502563.1:n.*3274_*3277dup
ENST00000675843.1:c.8139_8142dup (ATM) MANE Select	ENSP00000501606.1:p.Leu2715ThrfsTer4
ENST00000278616.8:c.8139_8142dup (ATM)	ENSP00000278616.4:p.Leu2715ThrfsTer4
ENST00000452508.6:c.8139_8142dup (ATM)	ENSP00000388058.2:p.Leu2715ThrfsTer4
ENST00000524755.5:c.299+122_299+125dup (C11orf65)
ENST00000524792.5:n.4354_4357dup (ATM)
ENST00000525056.1:n.336_339dup (ATM)
ENST00000525729.5:c.641-26027_641-26024dup (C11orf65)	ENSP00000433395.1:n.641-26027_641-26024dup
ENST00000527531.5:c.*1269+122_*1269+125dup (C11orf65)	ENSP00000431706.1:n.*1269+122_*1269+125dup
ENST00000533979.5:n.351_354dup (ATM)
ENST00000615746.4:c.*1269+122_*1269+125dup (C11orf65)	ENSP00000483537.1:n.*1269+122_*1269+125dup
NM_000051.3:c.8139_8142dup , LRG_135t1:c.8139_8142dup (ATM)	NP_000042.3:p.Leu2715ThrfsTer4
XM_005271414.3:c.*38+122_*38+125dup (C11orf65)	XP_005271471.1:n.*38+122_*38+125dup
XM_005271415.3:c.804+122_804+125dup (C11orf65)	XP_005271472.1:n.804+122_804+125dup
XM_005271561.3:c.8139_8142dup (ATM)	XP_005271618.2:p.Leu2715ThrfsTer4
XM_005271562.3:c.8139_8142dup (ATM)	XP_005271619.2:p.Leu2715ThrfsTer4
XM_006718843.2:c.8139_8142dup (ATM)	XP_006718906.1:p.Leu2715ThrfsTer4
XM_006718845.1:c.4095_4098dup (ATM)	XP_006718908.1:p.Leu1367ThrfsTer4
XM_011542840.1:c.8139_8142dup (ATM)	XP_011541142.1:p.Leu2715ThrfsTer4
XM_011542841.1:c.8139_8142dup (ATM)	XP_011541143.1:p.Leu2715ThrfsTer4
XM_011542842.1:c.7974_7977dup (ATM)	XP_011541144.1:p.Leu2660ThrfsTer4
XM_011542843.1:c.8139_8142dup (ATM)	XP_011541145.1:p.Leu2715ThrfsTer4
XM_011542844.1:c.7095_7098dup (ATM)	XP_011541146.1:p.Leu2367ThrfsTer4
XM_011542845.1:c.6831_6834dup (ATM)	XP_011541147.1:p.Leu2279ThrfsTer4
XM_011542847.1:c.3210_3213dup (ATM)	XP_011541149.1:p.Leu1072ThrfsTer4
NM_001330368.1:c.641-26027_641-26024dup (C11orf65)	NP_001317297.1:n.641-26027_641-26024dup
NM_001351110.1:c.*38+122_*38+125dup (C11orf65)	NP_001338039.1:n.*38+122_*38+125dup
NM_001351834.1:c.8139_8142dup (ATM)	NP_001338763.1:p.Leu2715ThrfsTer4
NR_147053.2:n.2374+122_2374+125dup (C11orf65)
XM_005271414.4:c.*38+122_*38+125dup (C11orf65)	XP_005271471.1:n.*38+122_*38+125dup
XM_005271415.4:c.804+122_804+125dup (C11orf65)	XP_005271472.1:n.804+122_804+125dup
XM_005271562.5:c.8139_8142dup (ATM)	XP_005271619.2:p.Leu2715ThrfsTer4
XM_006718843.4:c.8139_8142dup (ATM)	XP_006718906.1:p.Leu2715ThrfsTer4
XM_006718845.2:c.4095_4098dup (ATM)	XP_006718908.1:p.Leu1367ThrfsTer4
XM_011542840.3:c.8139_8142dup (ATM)	XP_011541142.1:p.Leu2715ThrfsTer4
XM_011542842.3:c.7974_7977dup (ATM)	XP_011541144.1:p.Leu2660ThrfsTer4
XM_011542843.2:c.8139_8142dup (ATM)	XP_011541145.1:p.Leu2715ThrfsTer4
XM_011542844.3:c.7095_7098dup (ATM)	XP_011541146.1:p.Leu2367ThrfsTer4
XM_011542845.2:c.6831_6834dup (ATM)	XP_011541147.1:p.Leu2279ThrfsTer4
XM_017017789.2:c.8139_8142dup (ATM)	XP_016873278.1:p.Leu2715ThrfsTer4
XM_017017790.2:c.8139_8142dup (ATM)	XP_016873279.1:p.Leu2715ThrfsTer4
NM_001330368.2:c.641-26027_641-26024dup (C11orf65)	NP_001317297.1:n.641-26027_641-26024dup
NM_001351110.2:c.*38+122_*38+125dup (C11orf65)	NP_001338039.1:n.*38+122_*38+125dup
NM_001351834.2:c.8139_8142dup (ATM)	NP_001338763.1:p.Leu2715ThrfsTer4
NM_000051.4:c.8139_8142dup (ATM) MANE Select	NP_000042.3:p.Leu2715ThrfsTer4
NR_147053.3:n.2372+122_2372+125dup (C11orf65)