Canonical Allele Identifier: CA915948288

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 653860
• ClinVar RCV Id: RCV000809700
• dbSNP Id: rs1591167422

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331477_108331490delinsATG , CM000673.2:g.108331477_108331490delinsATG	GRCh38
NC_000011.9:g.108202204_108202217delinsATG , CM000673.1:g.108202204_108202217delinsATG	GRCh37
NC_000011.8:g.107707414_107707427delinsATG	NCBI36
NG_009830.1:g.113646_113659delinsATG , LRG_135:g.113646_113659delinsATG
NG_054724.1:g.143343_143356delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7549_7562delinsATG (ATM)	ENSP00000388058.2:p.Leu2517MetfsTer6
ENST00000713593.1:c.*7020_*7033delinsATG (ATM)	ENSP00000518889.1:n.*7020_*7033delinsATG
ENST00000278616.9:c.7549_7562delinsATG (ATM)	ENSP00000278616.4:p.Leu2517MetfsTer6
ENST00000525056.2:n.1968_1981delinsATG (ATM)
ENST00000525537.3:n.506_519delinsATG (ATM)
ENST00000638786.2:n.386_399delinsATG (ATM)
ENST00000682286.1:n.2306_2319delinsATG (ATM)
ENST00000682302.1:n.1967_1980delinsATG (ATM)
ENST00000683174.1:n.9033_9046delinsATG (ATM)
ENST00000683524.1:n.2773_2786delinsATG (ATM)
ENST00000684152.1:n.3263_3276delinsATG (ATM)
ENST00000684447.1:n.2012_2025delinsATG (ATM)
ENST00000527805.6:c.*2613_*2626delinsATG (ATM)	ENSP00000435747.2:n.*2613_*2626delinsATG
ENST00000675595.1:c.*2684_*2697delinsATG (ATM)	ENSP00000502563.1:n.*2684_*2697delinsATG
ENST00000675843.1:c.7549_7562delinsATG (ATM) MANE Select	ENSP00000501606.1:p.Leu2517MetfsTer6
ENST00000278616.8:c.7549_7562delinsATG (ATM)	ENSP00000278616.4:p.Leu2517MetfsTer6
ENST00000452508.6:c.7549_7562delinsATG (ATM)	ENSP00000388058.2:p.Leu2517MetfsTer6
ENST00000524755.5:c.377_390delinsCAT (C11orf65)
ENST00000524792.5:n.3764_3777delinsATG (ATM)
ENST00000525729.5:c.641-22419_641-22406delinsCAT (C11orf65)	ENSP00000433395.1:n.641-22419_641-22406delinsCAT
ENST00000527531.5:c.*1347_*1360delinsCAT (C11orf65)	ENSP00000431706.1:n.*1347_*1360delinsCAT
ENST00000533690.5:n.2953_2966delinsATG (ATM)
ENST00000615746.4:c.*1347_*1360delinsCAT (C11orf65)	ENSP00000483537.1:n.*1347_*1360delinsCAT
NM_000051.3:c.7549_7562delinsATG , LRG_135t1:c.7549_7562delinsATG (ATM)	NP_000042.3:p.Leu2517MetfsTer6
XM_005271415.3:c.*60_*73delinsCAT (C11orf65)	XP_005271472.1:n.*60_*73delinsCAT
XM_005271561.3:c.7549_7562delinsATG (ATM)	XP_005271618.2:p.Leu2517MetfsTer6
XM_005271562.3:c.7549_7562delinsATG (ATM)	XP_005271619.2:p.Leu2517MetfsTer6
XM_006718843.2:c.7549_7562delinsATG (ATM)	XP_006718906.1:p.Leu2517MetfsTer6
XM_006718845.1:c.3505_3518delinsATG (ATM)	XP_006718908.1:p.Leu1169MetfsTer6
XM_011542840.1:c.7549_7562delinsATG (ATM)	XP_011541142.1:p.Leu2517MetfsTer6
XM_011542841.1:c.7549_7562delinsATG (ATM)	XP_011541143.1:p.Leu2517MetfsTer6
XM_011542842.1:c.7384_7397delinsATG (ATM)	XP_011541144.1:p.Leu2462MetfsTer6
XM_011542843.1:c.7549_7562delinsATG (ATM)	XP_011541145.1:p.Leu2517MetfsTer6
XM_011542844.1:c.6505_6518delinsATG (ATM)	XP_011541146.1:p.Leu2169MetfsTer6
XM_011542845.1:c.6241_6254delinsATG (ATM)	XP_011541147.1:p.Leu2081MetfsTer6
XM_011542847.1:c.2620_2633delinsATG (ATM)	XP_011541149.1:p.Leu874MetfsTer6
NM_001330368.1:c.641-22419_641-22406delinsCAT (C11orf65)	NP_001317297.1:n.641-22419_641-22406delinsCAT
NM_001351110.1:c.*38+3730_*38+3743delinsCAT (C11orf65)	NP_001338039.1:n.*38+3730_*38+3743delinsCAT
NM_001351834.1:c.7549_7562delinsATG (ATM)	NP_001338763.1:p.Leu2517MetfsTer6
NR_147053.2:n.2452_2465delinsCAT (C11orf65)
XM_005271414.4:c.*116_*129delinsCAT (C11orf65)	XP_005271471.1:n.*116_*129delinsCAT
XM_005271415.4:c.*60_*73delinsCAT (C11orf65)	XP_005271472.1:n.*60_*73delinsCAT
XM_005271562.5:c.7549_7562delinsATG (ATM)	XP_005271619.2:p.Leu2517MetfsTer6
XM_006718843.4:c.7549_7562delinsATG (ATM)	XP_006718906.1:p.Leu2517MetfsTer6
XM_006718845.2:c.3505_3518delinsATG (ATM)	XP_006718908.1:p.Leu1169MetfsTer6
XM_011542840.3:c.7549_7562delinsATG (ATM)	XP_011541142.1:p.Leu2517MetfsTer6
XM_011542842.3:c.7384_7397delinsATG (ATM)	XP_011541144.1:p.Leu2462MetfsTer6
XM_011542843.2:c.7549_7562delinsATG (ATM)	XP_011541145.1:p.Leu2517MetfsTer6
XM_011542844.3:c.6505_6518delinsATG (ATM)	XP_011541146.1:p.Leu2169MetfsTer6
XM_011542845.2:c.6241_6254delinsATG (ATM)	XP_011541147.1:p.Leu2081MetfsTer6
XM_017017789.2:c.7549_7562delinsATG (ATM)	XP_016873278.1:p.Leu2517MetfsTer6
XM_017017790.2:c.7549_7562delinsATG (ATM)	XP_016873279.1:p.Leu2517MetfsTer6
NM_001330368.2:c.641-22419_641-22406delinsCAT (C11orf65)	NP_001317297.1:n.641-22419_641-22406delinsCAT
NM_001351110.2:c.*38+3730_*38+3743delinsCAT (C11orf65)	NP_001338039.1:n.*38+3730_*38+3743delinsCAT
NM_001351834.2:c.7549_7562delinsATG (ATM)	NP_001338763.1:p.Leu2517MetfsTer6
NM_000051.4:c.7549_7562delinsATG (ATM) MANE Select	NP_000042.3:p.Leu2517MetfsTer6
NR_147053.3:n.2450_2463delinsCAT (C11orf65)