Canonical Allele Identifier: CA2695215413

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3148529
• ClinVar RCV Id: RCV004442422
• dbSNP Id: rs2136573333

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332898_108332899del , CM000673.2:g.108332898_108332899del	GRCh38
NC_000011.9:g.108203625_108203626del , CM000673.1:g.108203625_108203626del	GRCh37
NC_000011.8:g.107708835_107708836del	NCBI36
NG_009830.1:g.115067_115068del , LRG_135:g.115067_115068del
NG_054724.1:g.141937_141938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7925_7926del (ATM)	ENSP00000388058.2:p.Arg2642LysfsTer13
ENST00000713593.1:c.*7396_*7397del (ATM)	ENSP00000518889.1:n.*7396_*7397del
ENST00000278616.9:c.7925_7926del (ATM)	ENSP00000278616.4:p.Arg2642LysfsTer13
ENST00000525056.2:n.2344_2345del (ATM)
ENST00000525537.3:n.1606_1607del (ATM)
ENST00000638786.2:n.625+861_625+862del (ATM)
ENST00000682286.1:n.2682_2683del (ATM)
ENST00000682302.1:n.2343_2344del (ATM)
ENST00000683174.1:n.9409_9410del (ATM)
ENST00000683524.1:n.3149_3150del (ATM)
ENST00000684152.1:n.3344-988_3344-987del (ATM)
ENST00000684180.1:n.399_400del (ATM)
ENST00000684447.1:n.3433_3434del (ATM)
ENST00000527805.6:c.*2989_*2990del (ATM)	ENSP00000435747.2:n.*2989_*2990del
ENST00000675595.1:c.*3060_*3061del (ATM)	ENSP00000502563.1:n.*3060_*3061del
ENST00000675843.1:c.7925_7926del (ATM) MANE Select	ENSP00000501606.1:p.Arg2642LysfsTer13
ENST00000278616.8:c.7925_7926del (ATM)	ENSP00000278616.4:p.Arg2642LysfsTer13
ENST00000452508.6:c.7925_7926del (ATM)	ENSP00000388058.2:p.Arg2642LysfsTer13
ENST00000524755.5:c.300-1329_300-1328del (C11orf65)
ENST00000524792.5:n.4140_4141del (ATM)
ENST00000525056.1:n.122_123del (ATM)
ENST00000525729.5:c.641-23825_641-23824del (C11orf65)	ENSP00000433395.1:n.641-23825_641-23824del
ENST00000527531.5:c.*1270-1329_*1270-1328del (C11orf65)	ENSP00000431706.1:n.*1270-1329_*1270-1328del
ENST00000533690.5:n.3329_3330del (ATM)
ENST00000533979.5:n.137_138del (ATM)
ENST00000615746.4:c.*1270-1329_*1270-1328del (C11orf65)	ENSP00000483537.1:n.*1270-1329_*1270-1328del
NM_000051.3:c.7925_7926del , LRG_135t1:c.7925_7926del (ATM)	NP_000042.3:p.Arg2642LysfsTer13
XM_005271414.3:c.*39-1329_*39-1328del (C11orf65)	XP_005271471.1:n.*39-1329_*39-1328del
XM_005271415.3:c.805-1329_805-1328del (C11orf65)	XP_005271472.1:n.805-1329_805-1328del
XM_005271561.3:c.7925_7926del (ATM)	XP_005271618.2:p.Arg2642LysfsTer13
XM_005271562.3:c.7925_7926del (ATM)	XP_005271619.2:p.Arg2642LysfsTer13
XM_006718843.2:c.7925_7926del (ATM)	XP_006718906.1:p.Arg2642LysfsTer13
XM_006718845.1:c.3881_3882del (ATM)	XP_006718908.1:p.Arg1294LysfsTer13
XM_011542840.1:c.7925_7926del (ATM)	XP_011541142.1:p.Arg2642LysfsTer13
XM_011542841.1:c.7925_7926del (ATM)	XP_011541143.1:p.Arg2642LysfsTer13
XM_011542842.1:c.7760_7761del (ATM)	XP_011541144.1:p.Arg2587LysfsTer13
XM_011542843.1:c.7925_7926del (ATM)	XP_011541145.1:p.Arg2642LysfsTer13
XM_011542844.1:c.6881_6882del (ATM)	XP_011541146.1:p.Arg2294LysfsTer13
XM_011542845.1:c.6617_6618del (ATM)	XP_011541147.1:p.Arg2206LysfsTer13
XM_011542847.1:c.2996_2997del (ATM)	XP_011541149.1:p.Arg999LysfsTer13
NM_001330368.1:c.641-23825_641-23824del (C11orf65)	NP_001317297.1:n.641-23825_641-23824del
NM_001351110.1:c.*38+2324_*38+2325del (C11orf65)	NP_001338039.1:n.*38+2324_*38+2325del
NM_001351834.1:c.7925_7926del (ATM)	NP_001338763.1:p.Arg2642LysfsTer13
NR_147053.2:n.2375-1329_2375-1328del (C11orf65)
XM_005271414.4:c.*39-1329_*39-1328del (C11orf65)	XP_005271471.1:n.*39-1329_*39-1328del
XM_005271415.4:c.805-1329_805-1328del (C11orf65)	XP_005271472.1:n.805-1329_805-1328del
XM_005271562.5:c.7925_7926del (ATM)	XP_005271619.2:p.Arg2642LysfsTer13
XM_006718843.4:c.7925_7926del (ATM)	XP_006718906.1:p.Arg2642LysfsTer13
XM_006718845.2:c.3881_3882del (ATM)	XP_006718908.1:p.Arg1294LysfsTer13
XM_011542840.3:c.7925_7926del (ATM)	XP_011541142.1:p.Arg2642LysfsTer13
XM_011542842.3:c.7760_7761del (ATM)	XP_011541144.1:p.Arg2587LysfsTer13
XM_011542843.2:c.7925_7926del (ATM)	XP_011541145.1:p.Arg2642LysfsTer13
XM_011542844.3:c.6881_6882del (ATM)	XP_011541146.1:p.Arg2294LysfsTer13
XM_011542845.2:c.6617_6618del (ATM)	XP_011541147.1:p.Arg2206LysfsTer13
XM_017017789.2:c.7925_7926del (ATM)	XP_016873278.1:p.Arg2642LysfsTer13
XM_017017790.2:c.7925_7926del (ATM)	XP_016873279.1:p.Arg2642LysfsTer13
NM_001330368.2:c.641-23825_641-23824del (C11orf65)	NP_001317297.1:n.641-23825_641-23824del
NM_001351110.2:c.*38+2324_*38+2325del (C11orf65)	NP_001338039.1:n.*38+2324_*38+2325del
NM_001351834.2:c.7925_7926del (ATM)	NP_001338763.1:p.Arg2642LysfsTer13
NM_000051.4:c.7925_7926del (ATM) MANE Select	NP_000042.3:p.Arg2642LysfsTer13
NR_147053.3:n.2373-1329_2373-1328del (C11orf65)