Canonical Allele Identifier: CA2573146663

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1611233
• ClinVar RCV Id: RCV002147953
• dbSNP Id: rs2136449779

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330194_108330198del , CM000673.2:g.108330194_108330198del	GRCh38
NC_000011.9:g.108200921_108200925del , CM000673.1:g.108200921_108200925del	GRCh37
NC_000011.8:g.107706131_107706135del	NCBI36
NG_009830.1:g.112363_112367del , LRG_135:g.112363_112367del
NG_054724.1:g.144638_144642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7308-20_7308-16del (ATM)	ENSP00000388058.2:n.7308-20_7308-16del
ENST00000713593.1:c.*6779-20_*6779-16del (ATM)	ENSP00000518889.1:n.*6779-20_*6779-16del
ENST00000278616.9:c.7308-20_7308-16del (ATM)	ENSP00000278616.4:n.7308-20_7308-16del
ENST00000525056.2:n.1727-20_1727-16del (ATM)
ENST00000525537.3:n.265-20_265-16del (ATM)
ENST00000638786.2:n.145-20_145-16del (ATM)
ENST00000682286.1:n.2065-20_2065-16del (ATM)
ENST00000682302.1:n.1726-20_1726-16del (ATM)
ENST00000683174.1:n.8792-20_8792-16del (ATM)
ENST00000683524.1:n.2532-20_2532-16del (ATM)
ENST00000684152.1:n.3022-20_3022-16del (ATM)
ENST00000684447.1:n.1771-20_1771-16del (ATM)
ENST00000527805.6:c.*2372-20_*2372-16del (ATM)	ENSP00000435747.2:n.*2372-20_*2372-16del
ENST00000675595.1:c.*2443-20_*2443-16del (ATM)	ENSP00000502563.1:n.*2443-20_*2443-16del
ENST00000675843.1:c.7308-20_7308-16del (ATM) MANE Select	ENSP00000501606.1:n.7308-20_7308-16del
ENST00000278616.8:c.7308-20_7308-16del (ATM)	ENSP00000278616.4:n.7308-20_7308-16del
ENST00000452508.6:c.7308-20_7308-16del (ATM)	ENSP00000388058.2:n.7308-20_7308-16del
ENST00000524792.5:n.3523-20_3523-16del (ATM)
ENST00000525729.5:c.641-21124_641-21120del (C11orf65)	ENSP00000433395.1:n.641-21124_641-21120de...
ENST00000533690.5:n.2712-20_2712-16del (ATM)
NM_000051.3:c.7308-20_7308-16del , LRG_135t1:c.7308-20_7308-16del (ATM)	NP_000042.3:n.7308-20_7308-16del
XM_005271561.3:c.7308-20_7308-16del (ATM)	XP_005271618.2:n.7308-20_7308-16del
XM_005271562.3:c.7308-20_7308-16del (ATM)	XP_005271619.2:n.7308-20_7308-16del
XM_006718843.2:c.7308-20_7308-16del (ATM)	XP_006718906.1:n.7308-20_7308-16del
XM_006718845.1:c.3264-20_3264-16del (ATM)	XP_006718908.1:n.3264-20_3264-16del
XM_011542840.1:c.7308-20_7308-16del (ATM)	XP_011541142.1:n.7308-20_7308-16del
XM_011542841.1:c.7308-20_7308-16del (ATM)	XP_011541143.1:n.7308-20_7308-16del
XM_011542842.1:c.7143-20_7143-16del (ATM)	XP_011541144.1:n.7143-20_7143-16del
XM_011542843.1:c.7308-20_7308-16del (ATM)	XP_011541145.1:n.7308-20_7308-16del
XM_011542844.1:c.6264-20_6264-16del (ATM)	XP_011541146.1:n.6264-20_6264-16del
XM_011542845.1:c.6000-20_6000-16del (ATM)	XP_011541147.1:n.6000-20_6000-16del
XM_011542847.1:c.2379-20_2379-16del (ATM)	XP_011541149.1:n.2379-20_2379-16del
NM_001330368.1:c.641-21124_641-21120del (C11orf65)	NP_001317297.1:n.641-21124_641-21120del
NM_001351110.1:c.*38+5025_*38+5029del (C11orf65)	NP_001338039.1:n.*38+5025_*38+5029del
NM_001351834.1:c.7308-20_7308-16del (ATM)	NP_001338763.1:n.7308-20_7308-16del
XM_005271562.5:c.7308-20_7308-16del (ATM)	XP_005271619.2:n.7308-20_7308-16del
XM_006718843.4:c.7308-20_7308-16del (ATM)	XP_006718906.1:n.7308-20_7308-16del
XM_006718845.2:c.3264-20_3264-16del (ATM)	XP_006718908.1:n.3264-20_3264-16del
XM_011542840.3:c.7308-20_7308-16del (ATM)	XP_011541142.1:n.7308-20_7308-16del
XM_011542842.3:c.7143-20_7143-16del (ATM)	XP_011541144.1:n.7143-20_7143-16del
XM_011542843.2:c.7308-20_7308-16del (ATM)	XP_011541145.1:n.7308-20_7308-16del
XM_011542844.3:c.6264-20_6264-16del (ATM)	XP_011541146.1:n.6264-20_6264-16del
XM_011542845.2:c.6000-20_6000-16del (ATM)	XP_011541147.1:n.6000-20_6000-16del
XM_017017789.2:c.7308-20_7308-16del (ATM)	XP_016873278.1:n.7308-20_7308-16del
XM_017017790.2:c.7308-20_7308-16del (ATM)	XP_016873279.1:n.7308-20_7308-16del
NM_001330368.2:c.641-21124_641-21120del (C11orf65)	NP_001317297.1:n.641-21124_641-21120del
NM_001351110.2:c.*38+5025_*38+5029del (C11orf65)	NP_001338039.1:n.*38+5025_*38+5029del
NM_001351834.2:c.7308-20_7308-16del (ATM)	NP_001338763.1:n.7308-20_7308-16del
NM_000051.4:c.7308-20_7308-16del (ATM) MANE Select	NP_000042.3:n.7308-20_7308-16del