Canonical Allele Identifier: CA2582342460

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2583822
• ClinVar RCV Id: RCV003334744

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315837_108315838dup , CM000673.2:g.108315837_108315838dup	GRCh38
NC_000011.9:g.108186564_108186565dup , CM000673.1:g.108186564_108186565dup	GRCh37
NC_000011.8:g.107691774_107691775dup	NCBI36
NG_009830.1:g.98006_98007dup , LRG_135:g.98006_98007dup
NG_054724.1:g.158996_158997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6021_6022dup (ATM)	ENSP00000388058.2:p.Ile2008LysfsTer6
ENST00000713593.1:c.*5492_*5493dup (ATM)	ENSP00000518889.1:n.*5492_*5493dup
ENST00000278616.9:c.6021_6022dup (ATM)	ENSP00000278616.4:p.Ile2008LysfsTer6
ENST00000525056.2:n.440_441dup (ATM)
ENST00000682286.1:n.778_779dup (ATM)
ENST00000682302.1:n.439_440dup (ATM)
ENST00000683174.1:n.7505_7506dup (ATM)
ENST00000683524.1:n.1245_1246dup (ATM)
ENST00000684152.1:n.1735_1736dup (ATM)
ENST00000527805.6:c.*1085_*1086dup (ATM)	ENSP00000435747.2:n.*1085_*1086dup
ENST00000675595.1:c.*1085_*1086dup (ATM)	ENSP00000502563.1:n.*1085_*1086dup
ENST00000675843.1:c.6021_6022dup (ATM) MANE Select	ENSP00000501606.1:p.Ile2008LysfsTer6
ENST00000278616.8:c.6021_6022dup (ATM)	ENSP00000278616.4:p.Ile2008LysfsTer6
ENST00000452508.6:c.6021_6022dup (ATM)	ENSP00000388058.2:p.Ile2008LysfsTer6
ENST00000524792.5:n.2236_2237dup (ATM)
ENST00000525729.5:c.641-6766_641-6765dup (C11orf65)	ENSP00000433395.1:n.641-6766_641-6765dup
ENST00000529588.5:c.445_446dup (ATM)
ENST00000532765.1:n.338_339dup (ATM)
ENST00000533690.5:n.1425_1426dup (ATM)
NM_000051.3:c.6021_6022dup , LRG_135t1:c.6021_6022dup (ATM)	NP_000042.3:p.Ile2008LysfsTer6
XM_005271561.3:c.6021_6022dup (ATM)	XP_005271618.2:p.Ile2008LysfsTer6
XM_005271562.3:c.6021_6022dup (ATM)	XP_005271619.2:p.Ile2008LysfsTer6
XM_006718843.2:c.6021_6022dup (ATM)	XP_006718906.1:p.Ile2008LysfsTer6
XM_006718845.1:c.1977_1978dup (ATM)	XP_006718908.1:p.Ile660LysfsTer6
XM_011542840.1:c.6021_6022dup (ATM)	XP_011541142.1:p.Ile2008LysfsTer6
XM_011542841.1:c.6021_6022dup (ATM)	XP_011541143.1:p.Ile2008LysfsTer6
XM_011542842.1:c.5856_5857dup (ATM)	XP_011541144.1:p.Ile1953LysfsTer6
XM_011542843.1:c.6021_6022dup (ATM)	XP_011541145.1:p.Ile2008LysfsTer6
XM_011542844.1:c.4977_4978dup (ATM)	XP_011541146.1:p.Ile1660LysfsTer6
XM_011542845.1:c.4713_4714dup (ATM)	XP_011541147.1:p.Ile1572LysfsTer6
XM_011542847.1:c.1092_1093dup (ATM)	XP_011541149.1:p.Ile365LysfsTer6
NM_001330368.1:c.641-6766_641-6765dup (C11orf65)	NP_001317297.1:n.641-6766_641-6765dup
NM_001351110.1:c.*39-6766_*39-6765dup (C11orf65)	NP_001338039.1:n.*39-6766_*39-6765dup
NM_001351834.1:c.6021_6022dup (ATM)	NP_001338763.1:p.Ile2008LysfsTer6
XM_005271562.5:c.6021_6022dup (ATM)	XP_005271619.2:p.Ile2008LysfsTer6
XM_006718843.4:c.6021_6022dup (ATM)	XP_006718906.1:p.Ile2008LysfsTer6
XM_006718845.2:c.1977_1978dup (ATM)	XP_006718908.1:p.Ile660LysfsTer6
XM_011542840.3:c.6021_6022dup (ATM)	XP_011541142.1:p.Ile2008LysfsTer6
XM_011542842.3:c.5856_5857dup (ATM)	XP_011541144.1:p.Ile1953LysfsTer6
XM_011542843.2:c.6021_6022dup (ATM)	XP_011541145.1:p.Ile2008LysfsTer6
XM_011542844.3:c.4977_4978dup (ATM)	XP_011541146.1:p.Ile1660LysfsTer6
XM_011542845.2:c.4713_4714dup (ATM)	XP_011541147.1:p.Ile1572LysfsTer6
XM_017017789.2:c.6021_6022dup (ATM)	XP_016873278.1:p.Ile2008LysfsTer6
XM_017017790.2:c.6021_6022dup (ATM)	XP_016873279.1:p.Ile2008LysfsTer6
XM_017017791.1:c.6021_6022dup (ATM)	XP_016873280.1:p.Ile2008LysfsTer6
NM_001330368.2:c.641-6766_641-6765dup (C11orf65)	NP_001317297.1:n.641-6766_641-6765dup
NM_001351110.2:c.*39-6766_*39-6765dup (C11orf65)	NP_001338039.1:n.*39-6766_*39-6765dup
NM_001351834.2:c.6021_6022dup (ATM)	NP_001338763.1:p.Ile2008LysfsTer6
NM_000051.4:c.6021_6022dup (ATM) MANE Select	NP_000042.3:p.Ile2008LysfsTer6