Canonical Allele Identifier: CA645596406

Gene: ATM C11orf65

Linked Data

• COSMIC: COSM238885

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315847_108315848del , CM000673.2:g.108315847_108315848del	GRCh38
NC_000011.9:g.108186574_108186575del , CM000673.1:g.108186574_108186575del	GRCh37
NC_000011.8:g.107691784_107691785del	NCBI36
NG_009830.1:g.98016_98017del , LRG_135:g.98016_98017del
NG_054724.1:g.158985_158986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6031_6032del (ATM)	ENSP00000388058.2:p.Ser2011TyrfsTer6
ENST00000713593.1:c.*5502_*5503del (ATM)	ENSP00000518889.1:n.*5502_*5503del
ENST00000278616.9:c.6031_6032del (ATM)	ENSP00000278616.4:p.Ser2011TyrfsTer6
ENST00000525056.2:n.450_451del (ATM)
ENST00000682286.1:n.788_789del (ATM)
ENST00000682302.1:n.449_450del (ATM)
ENST00000683174.1:n.7515_7516del (ATM)
ENST00000683524.1:n.1255_1256del (ATM)
ENST00000684152.1:n.1745_1746del (ATM)
ENST00000527805.6:c.*1095_*1096del (ATM)	ENSP00000435747.2:n.*1095_*1096del
ENST00000675595.1:c.*1095_*1096del (ATM)	ENSP00000502563.1:n.*1095_*1096del
ENST00000675843.1:c.6031_6032del (ATM) MANE Select	ENSP00000501606.1:p.Ser2011TyrfsTer6
ENST00000278616.8:c.6031_6032del (ATM)	ENSP00000278616.4:p.Ser2011TyrfsTer6
ENST00000452508.6:c.6031_6032del (ATM)	ENSP00000388058.2:p.Ser2011TyrfsTer6
ENST00000524792.5:n.2246_2247del (ATM)
ENST00000525729.5:c.641-6777_641-6776del (C11orf65)	ENSP00000433395.1:n.641-6777_641-6776del
ENST00000529588.5:c.455_456del (ATM)
ENST00000532765.1:n.348_349del (ATM)
ENST00000533690.5:n.1435_1436del (ATM)
NM_000051.3:c.6031_6032del , LRG_135t1:c.6031_6032del (ATM)	NP_000042.3:p.Ser2011TyrfsTer6
XM_005271561.3:c.6031_6032del (ATM)	XP_005271618.2:p.Ser2011TyrfsTer6
XM_005271562.3:c.6031_6032del (ATM)	XP_005271619.2:p.Ser2011TyrfsTer6
XM_006718843.2:c.6031_6032del (ATM)	XP_006718906.1:p.Ser2011TyrfsTer6
XM_006718845.1:c.1987_1988del (ATM)	XP_006718908.1:p.Ser663TyrfsTer6
XM_011542840.1:c.6031_6032del (ATM)	XP_011541142.1:p.Ser2011TyrfsTer6
XM_011542841.1:c.6031_6032del (ATM)	XP_011541143.1:p.Ser2011TyrfsTer6
XM_011542842.1:c.5866_5867del (ATM)	XP_011541144.1:p.Ser1956TyrfsTer6
XM_011542843.1:c.6031_6032del (ATM)	XP_011541145.1:p.Ser2011TyrfsTer6
XM_011542844.1:c.4987_4988del (ATM)	XP_011541146.1:p.Ser1663TyrfsTer6
XM_011542845.1:c.4723_4724del (ATM)	XP_011541147.1:p.Ser1575TyrfsTer6
XM_011542847.1:c.1102_1103del (ATM)	XP_011541149.1:p.Ser368TyrfsTer6
NM_001330368.1:c.641-6777_641-6776del (C11orf65)	NP_001317297.1:n.641-6777_641-6776del
NM_001351110.1:c.*39-6777_*39-6776del (C11orf65)	NP_001338039.1:n.*39-6777_*39-6776del
NM_001351834.1:c.6031_6032del (ATM)	NP_001338763.1:p.Ser2011TyrfsTer6
XM_005271562.5:c.6031_6032del (ATM)	XP_005271619.2:p.Ser2011TyrfsTer6
XM_006718843.4:c.6031_6032del (ATM)	XP_006718906.1:p.Ser2011TyrfsTer6
XM_006718845.2:c.1987_1988del (ATM)	XP_006718908.1:p.Ser663TyrfsTer6
XM_011542840.3:c.6031_6032del (ATM)	XP_011541142.1:p.Ser2011TyrfsTer6
XM_011542842.3:c.5866_5867del (ATM)	XP_011541144.1:p.Ser1956TyrfsTer6
XM_011542843.2:c.6031_6032del (ATM)	XP_011541145.1:p.Ser2011TyrfsTer6
XM_011542844.3:c.4987_4988del (ATM)	XP_011541146.1:p.Ser1663TyrfsTer6
XM_011542845.2:c.4723_4724del (ATM)	XP_011541147.1:p.Ser1575TyrfsTer6
XM_017017789.2:c.6031_6032del (ATM)	XP_016873278.1:p.Ser2011TyrfsTer6
XM_017017790.2:c.6031_6032del (ATM)	XP_016873279.1:p.Ser2011TyrfsTer6
XM_017017791.1:c.6031_6032del (ATM)	XP_016873280.1:p.Ser2011TyrfsTer6
NM_001330368.2:c.641-6777_641-6776del (C11orf65)	NP_001317297.1:n.641-6777_641-6776del
NM_001351110.2:c.*39-6777_*39-6776del (C11orf65)	NP_001338039.1:n.*39-6777_*39-6776del
NM_001351834.2:c.6031_6032del (ATM)	NP_001338763.1:p.Ser2011TyrfsTer6
NM_000051.4:c.6031_6032del (ATM) MANE Select	NP_000042.3:p.Ser2011TyrfsTer6