Canonical Allele Identifier: CA1998820844

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2089595886

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354179_108354184dup , CM000673.2:g.108354179_108354184dup	GRCh38
NC_000011.9:g.108224906_108224911dup , CM000673.1:g.108224906_108224911dup	GRCh37
NC_000011.8:g.107730116_107730121dup	NCBI36
NG_009830.1:g.136348_136353dup , LRG_135:g.136348_136353dup
NG_054724.1:g.120649_120654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+299_8786+304dup (ATM)	ENSP00000388058.2:n.8786+299_8786+304dup
ENST00000713593.1:c.*8257+299_*8257+304dup (ATM)	ENSP00000518889.1:n.*8257+299_*8257+304dup
ENST00000278616.9:c.8786+299_8786+304dup (ATM)	ENSP00000278616.4:n.8786+299_8786+304dup
ENST00000638786.2:n.1484+299_1484+304dup (ATM)
ENST00000682286.1:n.3543+299_3543+304dup (ATM)
ENST00000682302.1:n.3204+299_3204+304dup (ATM)
ENST00000683174.1:n.10270+299_10270+304dup (ATM)
ENST00000683524.1:n.4010+299_4010+304dup (ATM)
ENST00000684152.1:n.4202+299_4202+304dup (ATM)
ENST00000684180.1:n.1260+299_1260+304dup (ATM)
ENST00000684447.1:n.5279+299_5279+304dup (ATM)
ENST00000527805.6:c.*3850+299_*3850+304dup (ATM)	ENSP00000435747.2:n.*3850+299_*3850+304dup
ENST00000675595.1:c.*3921+299_*3921+304dup (ATM)	ENSP00000502563.1:n.*3921+299_*3921+304dup
ENST00000675843.1:c.8786+299_8786+304dup (ATM) MANE Select	ENSP00000501606.1:n.8786+299_8786+304dup
ENST00000278616.8:c.8786+299_8786+304dup (ATM)	ENSP00000278616.4:n.8786+299_8786+304dup
ENST00000452508.6:c.8786+299_8786+304dup (ATM)	ENSP00000388058.2:n.8786+299_8786+304dup
ENST00000524755.5:c.227-18892_227-18887dup (C11orf65)
ENST00000524792.5:n.5001+299_5001+304dup (ATM)
ENST00000525178.5:n.274+299_274+304dup (ATM)
ENST00000525729.5:c.640+31736_640+31741dup (C11orf65)	ENSP00000433395.1:n.640+31736_640+31741dup
ENST00000526725.1:n.272-13820_272-13815dup (C11orf65)
ENST00000527181.1:n.125+299_125+304dup (ATM)
ENST00000527531.5:c.*1196+731_*1196+736dup (C11orf65)	ENSP00000431706.1:n.*1196+731_*1196+736dup
ENST00000615746.4:c.*1196+731_*1196+736dup (C11orf65)	ENSP00000483537.1:n.*1196+731_*1196+736dup
NM_000051.3:c.8786+299_8786+304dup , LRG_135t1:c.8786+299_8786+304dup (ATM)	NP_000042.3:n.8786+299_8786+304dup
XM_005271414.3:c.788-18892_788-18887dup (C11orf65)	XP_005271471.1:n.788-18892_788-18887dup
XM_005271415.3:c.732-18892_732-18887dup (C11orf65)	XP_005271472.1:n.732-18892_732-18887dup
XM_005271561.3:c.8786+299_8786+304dup (ATM)	XP_005271618.2:n.8786+299_8786+304dup
XM_005271562.3:c.8786+299_8786+304dup (ATM)	XP_005271619.2:n.8786+299_8786+304dup
XM_006718843.2:c.8786+299_8786+304dup (ATM)	XP_006718906.1:n.8786+299_8786+304dup
XM_006718845.1:c.4742+299_4742+304dup (ATM)	XP_006718908.1:n.4742+299_4742+304dup
XM_011542640.1:c.788-13820_788-13815dup (C11orf65)	XP_011540942.1:n.788-13820_788-13815dup
XM_011542642.1:c.732-5111_732-5106dup (C11orf65)	XP_011540944.1:n.732-5111_732-5106dup
XM_011542643.1:c.732-13820_732-13815dup (C11orf65)	XP_011540945.1:n.732-13820_732-13815dup
XM_011542840.1:c.8786+299_8786+304dup (ATM)	XP_011541142.1:n.8786+299_8786+304dup
XM_011542841.1:c.8786+299_8786+304dup (ATM)	XP_011541143.1:n.8786+299_8786+304dup
XM_011542842.1:c.8621+299_8621+304dup (ATM)	XP_011541144.1:n.8621+299_8621+304dup
XM_011542844.1:c.7742+299_7742+304dup (ATM)	XP_011541146.1:n.7742+299_7742+304dup
XM_011542845.1:c.7478+299_7478+304dup (ATM)	XP_011541147.1:n.7478+299_7478+304dup
XM_011542847.1:c.3857+299_3857+304dup (ATM)	XP_011541149.1:n.3857+299_3857+304dup
NM_001330368.1:c.640+31736_640+31741dup (C11orf65)	NP_001317297.1:n.640+31736_640+31741dup
NM_001351110.1:c.695-18892_695-18887dup (C11orf65)	NP_001338039.1:n.695-18892_695-18887dup
NM_001351834.1:c.8786+299_8786+304dup (ATM)	NP_001338763.1:n.8786+299_8786+304dup
NR_147053.2:n.2301+731_2301+736dup (C11orf65)
XM_005271414.4:c.788-18892_788-18887dup (C11orf65)	XP_005271471.1:n.788-18892_788-18887dup
XM_005271415.4:c.732-18892_732-18887dup (C11orf65)	XP_005271472.1:n.732-18892_732-18887dup
XM_005271562.5:c.8786+299_8786+304dup (ATM)	XP_005271619.2:n.8786+299_8786+304dup
XM_006718843.4:c.8786+299_8786+304dup (ATM)	XP_006718906.1:n.8786+299_8786+304dup
XM_006718845.2:c.4742+299_4742+304dup (ATM)	XP_006718908.1:n.4742+299_4742+304dup
XM_011542640.2:c.788-13820_788-13815dup (C11orf65)	XP_011540942.1:n.788-13820_788-13815dup
XM_011542643.2:c.732-13820_732-13815dup (C11orf65)	XP_011540945.1:n.732-13820_732-13815dup
XM_011542840.3:c.8786+299_8786+304dup (ATM)	XP_011541142.1:n.8786+299_8786+304dup
XM_011542842.3:c.8621+299_8621+304dup (ATM)	XP_011541144.1:n.8621+299_8621+304dup
XM_011542844.3:c.7742+299_7742+304dup (ATM)	XP_011541146.1:n.7742+299_7742+304dup
XM_011542845.2:c.7478+299_7478+304dup (ATM)	XP_011541147.1:n.7478+299_7478+304dup
XM_017017247.1:c.904-13820_904-13815dup (C11orf65)	XP_016872736.1:n.904-13820_904-13815dup
XM_017017789.2:c.8786+299_8786+304dup (ATM)	XP_016873278.1:n.8786+299_8786+304dup
XM_017017790.2:c.8786+299_8786+304dup (ATM)	XP_016873279.1:n.8786+299_8786+304dup
NM_001330368.2:c.640+31736_640+31741dup (C11orf65)	NP_001317297.1:n.640+31736_640+31741dup
NM_001351110.2:c.695-18892_695-18887dup (C11orf65)	NP_001338039.1:n.695-18892_695-18887dup
NM_001351834.2:c.8786+299_8786+304dup (ATM)	NP_001338763.1:n.8786+299_8786+304dup
NM_000051.4:c.8786+299_8786+304dup (ATM) MANE Select	NP_000042.3:n.8786+299_8786+304dup
NR_147053.3:n.2299+731_2299+736dup (C11orf65)