Canonical Allele Identifier: CA2825001974

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3148463
• ClinVar RCV Id: RCV004440369

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332818_108332819del , CM000673.2:g.108332818_108332819del	GRCh38
NC_000011.9:g.108203545_108203546del , CM000673.1:g.108203545_108203546del	GRCh37
NC_000011.8:g.107708755_107708756del	NCBI36
NG_009830.1:g.114987_114988del , LRG_135:g.114987_114988del
NG_054724.1:g.142015_142016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7845_7846del (ATM)	ENSP00000388058.2:p.Gln2615HisfsTer6
ENST00000713593.1:c.*7316_*7317del (ATM)	ENSP00000518889.1:n.*7316_*7317del
ENST00000278616.9:c.7845_7846del (ATM)	ENSP00000278616.4:p.Gln2615HisfsTer6
ENST00000525056.2:n.2264_2265del (ATM)
ENST00000525537.3:n.1526_1527del (ATM)
ENST00000638786.2:n.625+781_625+782del (ATM)
ENST00000682286.1:n.2602_2603del (ATM)
ENST00000682302.1:n.2263_2264del (ATM)
ENST00000683174.1:n.9329_9330del (ATM)
ENST00000683524.1:n.3069_3070del (ATM)
ENST00000684152.1:n.3344-1068_3344-1067del (ATM)
ENST00000684180.1:n.319_320del (ATM)
ENST00000684447.1:n.3353_3354del (ATM)
ENST00000527805.6:c.*2909_*2910del (ATM)	ENSP00000435747.2:n.*2909_*2910del
ENST00000675595.1:c.*2980_*2981del (ATM)	ENSP00000502563.1:n.*2980_*2981del
ENST00000675843.1:c.7845_7846del (ATM) MANE Select	ENSP00000501606.1:p.Gln2615HisfsTer6
ENST00000278616.8:c.7845_7846del (ATM)	ENSP00000278616.4:p.Gln2615HisfsTer6
ENST00000452508.6:c.7845_7846del (ATM)	ENSP00000388058.2:p.Gln2615HisfsTer6
ENST00000524755.5:c.300-1251_300-1250del (C11orf65)
ENST00000524792.5:n.4060_4061del (ATM)
ENST00000525056.1:n.42_43del (ATM)
ENST00000525729.5:c.641-23747_641-23746del (C11orf65)	ENSP00000433395.1:n.641-23747_641-23746del
ENST00000527531.5:c.*1270-1251_*1270-1250del (C11orf65)	ENSP00000431706.1:n.*1270-1251_*1270-1250del
ENST00000533690.5:n.3249_3250del (ATM)
ENST00000533979.5:n.57_58del (ATM)
ENST00000615746.4:c.*1270-1251_*1270-1250del (C11orf65)	ENSP00000483537.1:n.*1270-1251_*1270-1250del
NM_000051.3:c.7845_7846del , LRG_135t1:c.7845_7846del (ATM)	NP_000042.3:p.Gln2615HisfsTer6
XM_005271414.3:c.*39-1251_*39-1250del (C11orf65)	XP_005271471.1:n.*39-1251_*39-1250del
XM_005271415.3:c.805-1251_805-1250del (C11orf65)	XP_005271472.1:n.805-1251_805-1250del
XM_005271561.3:c.7845_7846del (ATM)	XP_005271618.2:p.Gln2615HisfsTer6
XM_005271562.3:c.7845_7846del (ATM)	XP_005271619.2:p.Gln2615HisfsTer6
XM_006718843.2:c.7845_7846del (ATM)	XP_006718906.1:p.Gln2615HisfsTer6
XM_006718845.1:c.3801_3802del (ATM)	XP_006718908.1:p.Gln1267HisfsTer6
XM_011542840.1:c.7845_7846del (ATM)	XP_011541142.1:p.Gln2615HisfsTer6
XM_011542841.1:c.7845_7846del (ATM)	XP_011541143.1:p.Gln2615HisfsTer6
XM_011542842.1:c.7680_7681del (ATM)	XP_011541144.1:p.Gln2560HisfsTer6
XM_011542843.1:c.7845_7846del (ATM)	XP_011541145.1:p.Gln2615HisfsTer6
XM_011542844.1:c.6801_6802del (ATM)	XP_011541146.1:p.Gln2267HisfsTer6
XM_011542845.1:c.6537_6538del (ATM)	XP_011541147.1:p.Gln2179HisfsTer6
XM_011542847.1:c.2916_2917del (ATM)	XP_011541149.1:p.Gln972HisfsTer6
NM_001330368.1:c.641-23747_641-23746del (C11orf65)	NP_001317297.1:n.641-23747_641-23746del
NM_001351110.1:c.*38+2402_*38+2403del (C11orf65)	NP_001338039.1:n.*38+2402_*38+2403del
NM_001351834.1:c.7845_7846del (ATM)	NP_001338763.1:p.Gln2615HisfsTer6
NR_147053.2:n.2375-1251_2375-1250del (C11orf65)
XM_005271414.4:c.*39-1251_*39-1250del (C11orf65)	XP_005271471.1:n.*39-1251_*39-1250del
XM_005271415.4:c.805-1251_805-1250del (C11orf65)	XP_005271472.1:n.805-1251_805-1250del
XM_005271562.5:c.7845_7846del (ATM)	XP_005271619.2:p.Gln2615HisfsTer6
XM_006718843.4:c.7845_7846del (ATM)	XP_006718906.1:p.Gln2615HisfsTer6
XM_006718845.2:c.3801_3802del (ATM)	XP_006718908.1:p.Gln1267HisfsTer6
XM_011542840.3:c.7845_7846del (ATM)	XP_011541142.1:p.Gln2615HisfsTer6
XM_011542842.3:c.7680_7681del (ATM)	XP_011541144.1:p.Gln2560HisfsTer6
XM_011542843.2:c.7845_7846del (ATM)	XP_011541145.1:p.Gln2615HisfsTer6
XM_011542844.3:c.6801_6802del (ATM)	XP_011541146.1:p.Gln2267HisfsTer6
XM_011542845.2:c.6537_6538del (ATM)	XP_011541147.1:p.Gln2179HisfsTer6
XM_017017789.2:c.7845_7846del (ATM)	XP_016873278.1:p.Gln2615HisfsTer6
XM_017017790.2:c.7845_7846del (ATM)	XP_016873279.1:p.Gln2615HisfsTer6
NM_001330368.2:c.641-23747_641-23746del (C11orf65)	NP_001317297.1:n.641-23747_641-23746del
NM_001351110.2:c.*38+2402_*38+2403del (C11orf65)	NP_001338039.1:n.*38+2402_*38+2403del
NM_001351834.2:c.7845_7846del (ATM)	NP_001338763.1:p.Gln2615HisfsTer6
NM_000051.4:c.7845_7846del (ATM) MANE Select	NP_000042.3:p.Gln2615HisfsTer6
NR_147053.3:n.2373-1251_2373-1250del (C11orf65)