Canonical Allele Identifier: CA2825001920

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3148535
• ClinVar RCV Id: RCV004442428

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310174_108310175delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC , CM000673.2:g.108310174_108310175delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC	GRCh38
NC_000011.9:g.108180901_108180902delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC , CM000673.1:g.108180901_108180902delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC	GRCh37
NC_000011.8:g.107686111_107686112delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC	NCBI36
NG_009830.1:g.92343_92344delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC , LRG_135:g.92343_92344delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC
NG_054724.1:g.164658_164659delinsGATGCTTCCTGAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	ENSP00000388058.2:p.Thr1926ArgfsTer7
ENST00000713593.1:c.*5248_*5249delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	ENSP00000518889.1:n.*5248_*5249delinsGGTCTTCTTTAGACCTTTAGACCT...
ENST00000278616.9:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	ENSP00000278616.4:p.Thr1926ArgfsTer7
ENST00000525056.2:n.196_197delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000682286.1:n.534_535delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000682302.1:n.195_196delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000683174.1:n.7261_7262delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000683524.1:n.1001_1002delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000684152.1:n.1491_1492delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000527805.6:c.*841_*842delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	ENSP00000435747.2:n.*841_*842delinsGGTCTTCTTTAGACCTTTAGACCTTT...
ENST00000675595.1:c.*841_*842delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	ENSP00000502563.1:n.*841_*842delinsGGTCTTCTTTAGACCTTTAGACCTTT...
ENST00000675843.1:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM) MANE Select	ENSP00000501606.1:p.Thr1926ArgfsTer7
ENST00000278616.8:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	ENSP00000278616.4:p.Thr1926ArgfsTer7
ENST00000452508.6:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	ENSP00000388058.2:p.Thr1926ArgfsTer7
ENST00000524792.5:n.1992_1993delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000525729.5:c.641-1104_641-1103delinsGATGCTTCCTGAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65)	ENSP00000433395.1:n.641-1104_641-1103delinsGATGCTTCCTGAAGAAGG...
ENST00000529588.5:c.201_202delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000532765.1:n.94_95delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
ENST00000533690.5:n.1181_1182delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
NM_000051.3:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC , LRG_135t1:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	NP_000042.3:p.Thr1926ArgfsTer7
XM_005271561.3:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_005271618.2:p.Thr1926ArgfsTer7
XM_005271562.3:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_005271619.2:p.Thr1926ArgfsTer7
XM_006718843.2:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_006718906.1:p.Thr1926ArgfsTer7
XM_006718845.1:c.1733_1734delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_006718908.1:p.Thr578ArgfsTer7
XM_011542840.1:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541142.1:p.Thr1926ArgfsTer7
XM_011542841.1:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541143.1:p.Thr1926ArgfsTer7
XM_011542842.1:c.5612_5613delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541144.1:p.Thr1871ArgfsTer7
XM_011542843.1:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541145.1:p.Thr1926ArgfsTer7
XM_011542844.1:c.4733_4734delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541146.1:p.Thr1578ArgfsTer7
XM_011542845.1:c.4469_4470delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541147.1:p.Thr1490ArgfsTer7
XM_011542847.1:c.848_849delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541149.1:p.Thr283ArgfsTer7
NM_001330368.1:c.641-1104_641-1103delinsGATGCTTCCTGAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65)	NP_001317297.1:n.641-1104_641-1103delinsGATGCTTCCTGAAGAAGGTCT...
NM_001351110.1:c.*39-1104_*39-1103delinsGATGCTTCCTGAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65)	NP_001338039.1:n.*39-1104_*39-1103delinsGATGCTTCCTGAAGAAGGTCT...
NM_001351834.1:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	NP_001338763.1:p.Thr1926ArgfsTer7
XM_005271562.5:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_005271619.2:p.Thr1926ArgfsTer7
XM_006718843.4:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_006718906.1:p.Thr1926ArgfsTer7
XM_006718845.2:c.1733_1734delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_006718908.1:p.Thr578ArgfsTer7
XM_011542840.3:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541142.1:p.Thr1926ArgfsTer7
XM_011542842.3:c.5612_5613delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541144.1:p.Thr1871ArgfsTer7
XM_011542843.2:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541145.1:p.Thr1926ArgfsTer7
XM_011542844.3:c.4733_4734delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541146.1:p.Thr1578ArgfsTer7
XM_011542845.2:c.4469_4470delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_011541147.1:p.Thr1490ArgfsTer7
XM_017017789.2:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_016873278.1:p.Thr1926ArgfsTer7
XM_017017790.2:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_016873279.1:p.Thr1926ArgfsTer7
XM_017017791.1:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	XP_016873280.1:p.Thr1926ArgfsTer7
XR_002957150.1:n.6377_6378delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)
NM_001330368.2:c.641-1104_641-1103delinsGATGCTTCCTGAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65)	NP_001317297.1:n.641-1104_641-1103delinsGATGCTTCCTGAAGAAGGTCT...
NM_001351110.2:c.*39-1104_*39-1103delinsGATGCTTCCTGAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65)	NP_001338039.1:n.*39-1104_*39-1103delinsGATGCTTCCTGAAGAAGGTCT...
NM_001351834.2:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM)	NP_001338763.1:p.Thr1926ArgfsTer7
NM_000051.4:c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (ATM) MANE Select	NP_000042.3:p.Thr1926ArgfsTer7