Canonical Allele Identifier: CA645598121

Gene: ATM C11orf65

Linked Data

• COSMIC: COSM21649

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332859_108332863dup , CM000673.2:g.108332859_108332863dup	GRCh38
NC_000011.9:g.108203586_108203590dup , CM000673.1:g.108203586_108203590dup	GRCh37
NC_000011.8:g.107708796_107708800dup	NCBI36
NG_009830.1:g.115028_115032dup , LRG_135:g.115028_115032dup
NG_054724.1:g.141978_141982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7886_7890dup (ATM)	ENSP00000388058.2:p.Ala2631TyrfsTer2
ENST00000713593.1:c.*7357_*7361dup (ATM)	ENSP00000518889.1:n.*7357_*7361dup
ENST00000278616.9:c.7886_7890dup (ATM)	ENSP00000278616.4:p.Ala2631TyrfsTer2
ENST00000525056.2:n.2305_2309dup (ATM)
ENST00000525537.3:n.1567_1571dup (ATM)
ENST00000638786.2:n.625+822_625+826dup (ATM)
ENST00000682286.1:n.2643_2647dup (ATM)
ENST00000682302.1:n.2304_2308dup (ATM)
ENST00000683174.1:n.9370_9374dup (ATM)
ENST00000683524.1:n.3110_3114dup (ATM)
ENST00000684152.1:n.3344-1027_3344-1023dup (ATM)
ENST00000684180.1:n.360_364dup (ATM)
ENST00000684447.1:n.3394_3398dup (ATM)
ENST00000527805.6:c.*2950_*2954dup (ATM)	ENSP00000435747.2:n.*2950_*2954dup
ENST00000675595.1:c.*3021_*3025dup (ATM)	ENSP00000502563.1:n.*3021_*3025dup
ENST00000675843.1:c.7886_7890dup (ATM) MANE Select	ENSP00000501606.1:p.Ala2631TyrfsTer2
ENST00000278616.8:c.7886_7890dup (ATM)	ENSP00000278616.4:p.Ala2631TyrfsTer2
ENST00000452508.6:c.7886_7890dup (ATM)	ENSP00000388058.2:p.Ala2631TyrfsTer2
ENST00000524755.5:c.300-1288_300-1284dup (C11orf65)
ENST00000524792.5:n.4101_4105dup (ATM)
ENST00000525056.1:n.83_87dup (ATM)
ENST00000525729.5:c.641-23784_641-23780dup (C11orf65)	ENSP00000433395.1:n.641-23784_641-23780dup
ENST00000527531.5:c.*1270-1288_*1270-1284dup (C11orf65)	ENSP00000431706.1:n.*1270-1288_*1270-1284dup
ENST00000533690.5:n.3290_3294dup (ATM)
ENST00000533979.5:n.98_102dup (ATM)
ENST00000615746.4:c.*1270-1288_*1270-1284dup (C11orf65)	ENSP00000483537.1:n.*1270-1288_*1270-1284dup
NM_000051.3:c.7886_7890dup , LRG_135t1:c.7886_7890dup (ATM)	NP_000042.3:p.Ala2631TyrfsTer2
XM_005271414.3:c.*39-1288_*39-1284dup (C11orf65)	XP_005271471.1:n.*39-1288_*39-1284dup
XM_005271415.3:c.805-1288_805-1284dup (C11orf65)	XP_005271472.1:n.805-1288_805-1284dup
XM_005271561.3:c.7886_7890dup (ATM)	XP_005271618.2:p.Ala2631TyrfsTer2
XM_005271562.3:c.7886_7890dup (ATM)	XP_005271619.2:p.Ala2631TyrfsTer2
XM_006718843.2:c.7886_7890dup (ATM)	XP_006718906.1:p.Ala2631TyrfsTer2
XM_006718845.1:c.3842_3846dup (ATM)	XP_006718908.1:p.Ala1283TyrfsTer2
XM_011542840.1:c.7886_7890dup (ATM)	XP_011541142.1:p.Ala2631TyrfsTer2
XM_011542841.1:c.7886_7890dup (ATM)	XP_011541143.1:p.Ala2631TyrfsTer2
XM_011542842.1:c.7721_7725dup (ATM)	XP_011541144.1:p.Ala2576TyrfsTer2
XM_011542843.1:c.7886_7890dup (ATM)	XP_011541145.1:p.Ala2631TyrfsTer2
XM_011542844.1:c.6842_6846dup (ATM)	XP_011541146.1:p.Ala2283TyrfsTer2
XM_011542845.1:c.6578_6582dup (ATM)	XP_011541147.1:p.Ala2195TyrfsTer2
XM_011542847.1:c.2957_2961dup (ATM)	XP_011541149.1:p.Ala988TyrfsTer2
NM_001330368.1:c.641-23784_641-23780dup (C11orf65)	NP_001317297.1:n.641-23784_641-23780dup
NM_001351110.1:c.*38+2365_*38+2369dup (C11orf65)	NP_001338039.1:n.*38+2365_*38+2369dup
NM_001351834.1:c.7886_7890dup (ATM)	NP_001338763.1:p.Ala2631TyrfsTer2
NR_147053.2:n.2375-1288_2375-1284dup (C11orf65)
XM_005271414.4:c.*39-1288_*39-1284dup (C11orf65)	XP_005271471.1:n.*39-1288_*39-1284dup
XM_005271415.4:c.805-1288_805-1284dup (C11orf65)	XP_005271472.1:n.805-1288_805-1284dup
XM_005271562.5:c.7886_7890dup (ATM)	XP_005271619.2:p.Ala2631TyrfsTer2
XM_006718843.4:c.7886_7890dup (ATM)	XP_006718906.1:p.Ala2631TyrfsTer2
XM_006718845.2:c.3842_3846dup (ATM)	XP_006718908.1:p.Ala1283TyrfsTer2
XM_011542840.3:c.7886_7890dup (ATM)	XP_011541142.1:p.Ala2631TyrfsTer2
XM_011542842.3:c.7721_7725dup (ATM)	XP_011541144.1:p.Ala2576TyrfsTer2
XM_011542843.2:c.7886_7890dup (ATM)	XP_011541145.1:p.Ala2631TyrfsTer2
XM_011542844.3:c.6842_6846dup (ATM)	XP_011541146.1:p.Ala2283TyrfsTer2
XM_011542845.2:c.6578_6582dup (ATM)	XP_011541147.1:p.Ala2195TyrfsTer2
XM_017017789.2:c.7886_7890dup (ATM)	XP_016873278.1:p.Ala2631TyrfsTer2
XM_017017790.2:c.7886_7890dup (ATM)	XP_016873279.1:p.Ala2631TyrfsTer2
NM_001330368.2:c.641-23784_641-23780dup (C11orf65)	NP_001317297.1:n.641-23784_641-23780dup
NM_001351110.2:c.*38+2365_*38+2369dup (C11orf65)	NP_001338039.1:n.*38+2365_*38+2369dup
NM_001351834.2:c.7886_7890dup (ATM)	NP_001338763.1:p.Ala2631TyrfsTer2
NM_000051.4:c.7886_7890dup (ATM) MANE Select	NP_000042.3:p.Ala2631TyrfsTer2
NR_147053.3:n.2373-1288_2373-1284dup (C11orf65)