Canonical Allele Identifier: CA2573146665

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1533314
• ClinVar RCV Id: RCV002107184
• dbSNP Id: rs2136450158

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330199_108330202dup , CM000673.2:g.108330199_108330202dup	GRCh38
NC_000011.9:g.108200926_108200929dup , CM000673.1:g.108200926_108200929dup	GRCh37
NC_000011.8:g.107706136_107706139dup	NCBI36
NG_009830.1:g.112368_112371dup , LRG_135:g.112368_112371dup
NG_054724.1:g.144634_144637dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7308-15_7308-12dup (ATM)	ENSP00000388058.2:n.7308-15_7308-12dup
ENST00000713593.1:c.*6779-15_*6779-12dup (ATM)	ENSP00000518889.1:n.*6779-15_*6779-12dup
ENST00000278616.9:c.7308-15_7308-12dup (ATM)	ENSP00000278616.4:n.7308-15_7308-12dup
ENST00000525056.2:n.1727-15_1727-12dup (ATM)
ENST00000525537.3:n.265-15_265-12dup (ATM)
ENST00000638786.2:n.145-15_145-12dup (ATM)
ENST00000682286.1:n.2065-15_2065-12dup (ATM)
ENST00000682302.1:n.1726-15_1726-12dup (ATM)
ENST00000683174.1:n.8792-15_8792-12dup (ATM)
ENST00000683524.1:n.2532-15_2532-12dup (ATM)
ENST00000684152.1:n.3022-15_3022-12dup (ATM)
ENST00000684447.1:n.1771-15_1771-12dup (ATM)
ENST00000527805.6:c.*2372-15_*2372-12dup (ATM)	ENSP00000435747.2:n.*2372-15_*2372-12dup
ENST00000675595.1:c.*2443-15_*2443-12dup (ATM)	ENSP00000502563.1:n.*2443-15_*2443-12dup
ENST00000675843.1:c.7308-15_7308-12dup (ATM) MANE Select	ENSP00000501606.1:n.7308-15_7308-12dup
ENST00000278616.8:c.7308-15_7308-12dup (ATM)	ENSP00000278616.4:n.7308-15_7308-12dup
ENST00000452508.6:c.7308-15_7308-12dup (ATM)	ENSP00000388058.2:n.7308-15_7308-12dup
ENST00000524792.5:n.3523-15_3523-12dup (ATM)
ENST00000525729.5:c.641-21128_641-21125dup (C11orf65)	ENSP00000433395.1:n.641-21128_641-21125du...
ENST00000533690.5:n.2712-15_2712-12dup (ATM)
NM_000051.3:c.7308-15_7308-12dup , LRG_135t1:c.7308-15_7308-12dup (ATM)	NP_000042.3:n.7308-15_7308-12dup
XM_005271561.3:c.7308-15_7308-12dup (ATM)	XP_005271618.2:n.7308-15_7308-12dup
XM_005271562.3:c.7308-15_7308-12dup (ATM)	XP_005271619.2:n.7308-15_7308-12dup
XM_006718843.2:c.7308-15_7308-12dup (ATM)	XP_006718906.1:n.7308-15_7308-12dup
XM_006718845.1:c.3264-15_3264-12dup (ATM)	XP_006718908.1:n.3264-15_3264-12dup
XM_011542840.1:c.7308-15_7308-12dup (ATM)	XP_011541142.1:n.7308-15_7308-12dup
XM_011542841.1:c.7308-15_7308-12dup (ATM)	XP_011541143.1:n.7308-15_7308-12dup
XM_011542842.1:c.7143-15_7143-12dup (ATM)	XP_011541144.1:n.7143-15_7143-12dup
XM_011542843.1:c.7308-15_7308-12dup (ATM)	XP_011541145.1:n.7308-15_7308-12dup
XM_011542844.1:c.6264-15_6264-12dup (ATM)	XP_011541146.1:n.6264-15_6264-12dup
XM_011542845.1:c.6000-15_6000-12dup (ATM)	XP_011541147.1:n.6000-15_6000-12dup
XM_011542847.1:c.2379-15_2379-12dup (ATM)	XP_011541149.1:n.2379-15_2379-12dup
NM_001330368.1:c.641-21128_641-21125dup (C11orf65)	NP_001317297.1:n.641-21128_641-21125dup
NM_001351110.1:c.*38+5021_*38+5024dup (C11orf65)	NP_001338039.1:n.*38+5021_*38+5024dup
NM_001351834.1:c.7308-15_7308-12dup (ATM)	NP_001338763.1:n.7308-15_7308-12dup
XM_005271562.5:c.7308-15_7308-12dup (ATM)	XP_005271619.2:n.7308-15_7308-12dup
XM_006718843.4:c.7308-15_7308-12dup (ATM)	XP_006718906.1:n.7308-15_7308-12dup
XM_006718845.2:c.3264-15_3264-12dup (ATM)	XP_006718908.1:n.3264-15_3264-12dup
XM_011542840.3:c.7308-15_7308-12dup (ATM)	XP_011541142.1:n.7308-15_7308-12dup
XM_011542842.3:c.7143-15_7143-12dup (ATM)	XP_011541144.1:n.7143-15_7143-12dup
XM_011542843.2:c.7308-15_7308-12dup (ATM)	XP_011541145.1:n.7308-15_7308-12dup
XM_011542844.3:c.6264-15_6264-12dup (ATM)	XP_011541146.1:n.6264-15_6264-12dup
XM_011542845.2:c.6000-15_6000-12dup (ATM)	XP_011541147.1:n.6000-15_6000-12dup
XM_017017789.2:c.7308-15_7308-12dup (ATM)	XP_016873278.1:n.7308-15_7308-12dup
XM_017017790.2:c.7308-15_7308-12dup (ATM)	XP_016873279.1:n.7308-15_7308-12dup
NM_001330368.2:c.641-21128_641-21125dup (C11orf65)	NP_001317297.1:n.641-21128_641-21125dup
NM_001351110.2:c.*38+5021_*38+5024dup (C11orf65)	NP_001338039.1:n.*38+5021_*38+5024dup
NM_001351834.2:c.7308-15_7308-12dup (ATM)	NP_001338763.1:n.7308-15_7308-12dup
NM_000051.4:c.7308-15_7308-12dup (ATM) MANE Select	NP_000042.3:n.7308-15_7308-12dup