Canonical Allele Identifier: CA2825001960

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3223196
• ClinVar RCV Id: RCV004508551

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335104_108335106del , CM000673.2:g.108335104_108335106del	GRCh38
NC_000011.9:g.108205831_108205833del , CM000673.1:g.108205831_108205833del	GRCh37
NC_000011.8:g.107711041_107711043del	NCBI36
NG_009830.1:g.117273_117275del , LRG_135:g.117273_117275del
NG_054724.1:g.139729_139731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8146_8148del (ATM)	ENSP00000388058.2:p.Val2716del
ENST00000713593.1:c.*7617_*7619del (ATM)	ENSP00000518889.1:n.*7617_*7619del
ENST00000278616.9:c.8146_8148del (ATM)	ENSP00000278616.4:p.Val2716del
ENST00000525056.2:n.2565_2567del (ATM)
ENST00000638786.2:n.844_846del (ATM)
ENST00000682286.1:n.2903_2905del (ATM)
ENST00000682302.1:n.2564_2566del (ATM)
ENST00000683174.1:n.9630_9632del (ATM)
ENST00000683524.1:n.3370_3372del (ATM)
ENST00000684152.1:n.3562_3564del (ATM)
ENST00000684180.1:n.620_622del (ATM)
ENST00000684447.1:n.4639_4641del (ATM)
ENST00000527805.6:c.*3210_*3212del (ATM)	ENSP00000435747.2:n.*3210_*3212del
ENST00000675595.1:c.*3281_*3283del (ATM)	ENSP00000502563.1:n.*3281_*3283del
ENST00000675843.1:c.8146_8148del (ATM) MANE Select	ENSP00000501606.1:p.Val2716del
ENST00000278616.8:c.8146_8148del (ATM)	ENSP00000278616.4:p.Val2716del
ENST00000452508.6:c.8146_8148del (ATM)	ENSP00000388058.2:p.Val2716del
ENST00000524755.5:c.299+116_299+118del (C11orf65)
ENST00000524792.5:n.4361_4363del (ATM)
ENST00000525056.1:n.343_345del (ATM)
ENST00000525729.5:c.641-26033_641-26031del (C11orf65)	ENSP00000433395.1:n.641-26033_641-26031del
ENST00000527531.5:c.*1269+116_*1269+118del (C11orf65)	ENSP00000431706.1:n.*1269+116_*1269+118del
ENST00000533979.5:n.358_360del (ATM)
ENST00000615746.4:c.*1269+116_*1269+118del (C11orf65)	ENSP00000483537.1:n.*1269+116_*1269+118del
NM_000051.3:c.8146_8148del , LRG_135t1:c.8146_8148del (ATM)	NP_000042.3:p.Val2716del
XM_005271414.3:c.*38+116_*38+118del (C11orf65)	XP_005271471.1:n.*38+116_*38+118del
XM_005271415.3:c.804+116_804+118del (C11orf65)	XP_005271472.1:n.804+116_804+118del
XM_005271561.3:c.8146_8148del (ATM)	XP_005271618.2:p.Val2716del
XM_005271562.3:c.8146_8148del (ATM)	XP_005271619.2:p.Val2716del
XM_006718843.2:c.8146_8148del (ATM)	XP_006718906.1:p.Val2716del
XM_006718845.1:c.4102_4104del (ATM)	XP_006718908.1:p.Val1368del
XM_011542840.1:c.8146_8148del (ATM)	XP_011541142.1:p.Val2716del
XM_011542841.1:c.8146_8148del (ATM)	XP_011541143.1:p.Val2716del
XM_011542842.1:c.7981_7983del (ATM)	XP_011541144.1:p.Val2661del
XM_011542843.1:c.8146_8148del (ATM)	XP_011541145.1:p.Val2716del
XM_011542844.1:c.7102_7104del (ATM)	XP_011541146.1:p.Val2368del
XM_011542845.1:c.6838_6840del (ATM)	XP_011541147.1:p.Val2280del
XM_011542847.1:c.3217_3219del (ATM)	XP_011541149.1:p.Val1073del
NM_001330368.1:c.641-26033_641-26031del (C11orf65)	NP_001317297.1:n.641-26033_641-26031del
NM_001351110.1:c.*38+116_*38+118del (C11orf65)	NP_001338039.1:n.*38+116_*38+118del
NM_001351834.1:c.8146_8148del (ATM)	NP_001338763.1:p.Val2716del
NR_147053.2:n.2374+116_2374+118del (C11orf65)
XM_005271414.4:c.*38+116_*38+118del (C11orf65)	XP_005271471.1:n.*38+116_*38+118del
XM_005271415.4:c.804+116_804+118del (C11orf65)	XP_005271472.1:n.804+116_804+118del
XM_005271562.5:c.8146_8148del (ATM)	XP_005271619.2:p.Val2716del
XM_006718843.4:c.8146_8148del (ATM)	XP_006718906.1:p.Val2716del
XM_006718845.2:c.4102_4104del (ATM)	XP_006718908.1:p.Val1368del
XM_011542840.3:c.8146_8148del (ATM)	XP_011541142.1:p.Val2716del
XM_011542842.3:c.7981_7983del (ATM)	XP_011541144.1:p.Val2661del
XM_011542843.2:c.8146_8148del (ATM)	XP_011541145.1:p.Val2716del
XM_011542844.3:c.7102_7104del (ATM)	XP_011541146.1:p.Val2368del
XM_011542845.2:c.6838_6840del (ATM)	XP_011541147.1:p.Val2280del
XM_017017789.2:c.8146_8148del (ATM)	XP_016873278.1:p.Val2716del
XM_017017790.2:c.8146_8148del (ATM)	XP_016873279.1:p.Val2716del
NM_001330368.2:c.641-26033_641-26031del (C11orf65)	NP_001317297.1:n.641-26033_641-26031del
NM_001351110.2:c.*38+116_*38+118del (C11orf65)	NP_001338039.1:n.*38+116_*38+118del
NM_001351834.2:c.8146_8148del (ATM)	NP_001338763.1:p.Val2716del
NM_000051.4:c.8146_8148del (ATM) MANE Select	NP_000042.3:p.Val2716del
NR_147053.3:n.2372+116_2372+118del (C11orf65)