Canonical Allele Identifier: CA671414686

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1418772331
• MyVariant Identifiers: chr11:g.108224795_108224796insACACAA (hg19) ; chr11:g.108354068_108354069insACACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354069_108354070insCACAAA , CM000673.2:g.108354069_108354070insCACAAA	GRCh38
NC_000011.9:g.108224796_108224797insCACAAA , CM000673.1:g.108224796_108224797insCACAAA	GRCh37
NC_000011.8:g.107730006_107730007insCACAAA	NCBI36
NG_009830.1:g.136238_136239insCACAAA , LRG_135:g.136238_136239insCACAAA
NG_054724.1:g.120764_120765insTTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+189_8786+190insCACAAA (ATM)	ENSP00000388058.2:n.8786+189_8786+190insCACAAA
ENST00000713593.1:c.*8257+189_*8257+190insCACAAA (ATM)	ENSP00000518889.1:n.*8257+189_*8257+190insCACAAA
ENST00000278616.9:c.8786+189_8786+190insCACAAA (ATM)	ENSP00000278616.4:n.8786+189_8786+190insCACAAA
ENST00000638786.2:n.1484+189_1484+190insCACAAA (ATM)
ENST00000682286.1:n.3543+189_3543+190insCACAAA (ATM)
ENST00000682302.1:n.3204+189_3204+190insCACAAA (ATM)
ENST00000683174.1:n.10270+189_10270+190insCACAAA (ATM)
ENST00000683524.1:n.4010+189_4010+190insCACAAA (ATM)
ENST00000684152.1:n.4202+189_4202+190insCACAAA (ATM)
ENST00000684180.1:n.1260+189_1260+190insCACAAA (ATM)
ENST00000684447.1:n.5279+189_5279+190insCACAAA (ATM)
ENST00000527805.6:c.*3850+189_*3850+190insCACAAA (ATM)	ENSP00000435747.2:n.*3850+189_*3850+190insCACAAA
ENST00000675595.1:c.*3921+189_*3921+190insCACAAA (ATM)	ENSP00000502563.1:n.*3921+189_*3921+190insCACAAA
ENST00000675843.1:c.8786+189_8786+190insCACAAA (ATM) MANE Select	ENSP00000501606.1:n.8786+189_8786+190insCACAAA
ENST00000278616.8:c.8786+189_8786+190insCACAAA (ATM)	ENSP00000278616.4:n.8786+189_8786+190insCACAAA
ENST00000452508.6:c.8786+189_8786+190insCACAAA (ATM)	ENSP00000388058.2:n.8786+189_8786+190insCACAAA
ENST00000524755.5:c.227-18777_227-18776insTTGTGT (C11orf65)
ENST00000524792.5:n.5001+189_5001+190insCACAAA (ATM)
ENST00000525178.5:n.274+189_274+190insCACAAA (ATM)
ENST00000525729.5:c.640+31851_640+31852insTTGTGT (C11orf65)	ENSP00000433395.1:n.640+31851_640+31852insTTGTGT
ENST00000526725.1:n.272-13705_272-13704insTTGTGT (C11orf65)
ENST00000527181.1:n.125+189_125+190insCACAAA (ATM)
ENST00000527531.5:c.*1196+846_*1196+847insTTGTGT (C11orf65)	ENSP00000431706.1:n.*1196+846_*1196+847insTTGTGT
ENST00000615746.4:c.*1196+846_*1196+847insTTGTGT (C11orf65)	ENSP00000483537.1:n.*1196+846_*1196+847insTTGTGT
NM_000051.3:c.8786+189_8786+190insCACAAA , LRG_135t1:c.8786+189_8786+190insCACAAA (ATM)	NP_000042.3:n.8786+189_8786+190insCACAAA
XM_005271414.3:c.788-18777_788-18776insTTGTGT (C11orf65)	XP_005271471.1:n.788-18777_788-18776insTTGTGT
XM_005271415.3:c.732-18777_732-18776insTTGTGT (C11orf65)	XP_005271472.1:n.732-18777_732-18776insTTGTGT
XM_005271561.3:c.8786+189_8786+190insCACAAA (ATM)	XP_005271618.2:n.8786+189_8786+190insCACAAA
XM_005271562.3:c.8786+189_8786+190insCACAAA (ATM)	XP_005271619.2:n.8786+189_8786+190insCACAAA
XM_006718843.2:c.8786+189_8786+190insCACAAA (ATM)	XP_006718906.1:n.8786+189_8786+190insCACAAA
XM_006718845.1:c.4742+189_4742+190insCACAAA (ATM)	XP_006718908.1:n.4742+189_4742+190insCACAAA
XM_011542640.1:c.788-13705_788-13704insTTGTGT (C11orf65)	XP_011540942.1:n.788-13705_788-13704insTTGTGT
XM_011542642.1:c.732-4996_732-4995insTTGTGT (C11orf65)	XP_011540944.1:n.732-4996_732-4995insTTGTGT
XM_011542643.1:c.732-13705_732-13704insTTGTGT (C11orf65)	XP_011540945.1:n.732-13705_732-13704insTTGTGT
XM_011542840.1:c.8786+189_8786+190insCACAAA (ATM)	XP_011541142.1:n.8786+189_8786+190insCACAAA
XM_011542841.1:c.8786+189_8786+190insCACAAA (ATM)	XP_011541143.1:n.8786+189_8786+190insCACAAA
XM_011542842.1:c.8621+189_8621+190insCACAAA (ATM)	XP_011541144.1:n.8621+189_8621+190insCACAAA
XM_011542844.1:c.7742+189_7742+190insCACAAA (ATM)	XP_011541146.1:n.7742+189_7742+190insCACAAA
XM_011542845.1:c.7478+189_7478+190insCACAAA (ATM)	XP_011541147.1:n.7478+189_7478+190insCACAAA
XM_011542847.1:c.3857+189_3857+190insCACAAA (ATM)	XP_011541149.1:n.3857+189_3857+190insCACAAA
NM_001330368.1:c.640+31851_640+31852insTTGTGT (C11orf65)	NP_001317297.1:n.640+31851_640+31852insTTGTGT
NM_001351110.1:c.695-18777_695-18776insTTGTGT (C11orf65)	NP_001338039.1:n.695-18777_695-18776insTTGTGT
NM_001351834.1:c.8786+189_8786+190insCACAAA (ATM)	NP_001338763.1:n.8786+189_8786+190insCACAAA
NR_147053.2:n.2301+846_2301+847insTTGTGT (C11orf65)
XM_005271414.4:c.788-18777_788-18776insTTGTGT (C11orf65)	XP_005271471.1:n.788-18777_788-18776insTTGTGT
XM_005271415.4:c.732-18777_732-18776insTTGTGT (C11orf65)	XP_005271472.1:n.732-18777_732-18776insTTGTGT
XM_005271562.5:c.8786+189_8786+190insCACAAA (ATM)	XP_005271619.2:n.8786+189_8786+190insCACAAA
XM_006718843.4:c.8786+189_8786+190insCACAAA (ATM)	XP_006718906.1:n.8786+189_8786+190insCACAAA
XM_006718845.2:c.4742+189_4742+190insCACAAA (ATM)	XP_006718908.1:n.4742+189_4742+190insCACAAA
XM_011542640.2:c.788-13705_788-13704insTTGTGT (C11orf65)	XP_011540942.1:n.788-13705_788-13704insTTGTGT
XM_011542643.2:c.732-13705_732-13704insTTGTGT (C11orf65)	XP_011540945.1:n.732-13705_732-13704insTTGTGT
XM_011542840.3:c.8786+189_8786+190insCACAAA (ATM)	XP_011541142.1:n.8786+189_8786+190insCACAAA
XM_011542842.3:c.8621+189_8621+190insCACAAA (ATM)	XP_011541144.1:n.8621+189_8621+190insCACAAA
XM_011542844.3:c.7742+189_7742+190insCACAAA (ATM)	XP_011541146.1:n.7742+189_7742+190insCACAAA
XM_011542845.2:c.7478+189_7478+190insCACAAA (ATM)	XP_011541147.1:n.7478+189_7478+190insCACAAA
XM_017017247.1:c.904-13705_904-13704insTTGTGT (C11orf65)	XP_016872736.1:n.904-13705_904-13704insTTGTGT
XM_017017789.2:c.8786+189_8786+190insCACAAA (ATM)	XP_016873278.1:n.8786+189_8786+190insCACAAA
XM_017017790.2:c.8786+189_8786+190insCACAAA (ATM)	XP_016873279.1:n.8786+189_8786+190insCACAAA
NM_001330368.2:c.640+31851_640+31852insTTGTGT (C11orf65)	NP_001317297.1:n.640+31851_640+31852insTTGTGT
NM_001351110.2:c.695-18777_695-18776insTTGTGT (C11orf65)	NP_001338039.1:n.695-18777_695-18776insTTGTGT
NM_001351834.2:c.8786+189_8786+190insCACAAA (ATM)	NP_001338763.1:n.8786+189_8786+190insCACAAA
NM_000051.4:c.8786+189_8786+190insCACAAA (ATM) MANE Select	NP_000042.3:n.8786+189_8786+190insCACAAA
NR_147053.3:n.2299+846_2299+847insTTGTGT (C11orf65)