Canonical Allele Identifier: CA1998820821

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2089588865

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354106_108354107insAT , CM000673.2:g.108354106_108354107insAT	GRCh38
NC_000011.9:g.108224833_108224834insAT , CM000673.1:g.108224833_108224834insAT	GRCh37
NC_000011.8:g.107730043_107730044insAT	NCBI36
NG_009830.1:g.136275_136276insAT , LRG_135:g.136275_136276insAT
NG_054724.1:g.120726_120727insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+226_8786+227insAT (ATM)	ENSP00000388058.2:n.8786+226_8786+227insAT
ENST00000713593.1:c.*8257+226_*8257+227insAT (ATM)	ENSP00000518889.1:n.*8257+226_*8257+227insAT
ENST00000278616.9:c.8786+226_8786+227insAT (ATM)	ENSP00000278616.4:n.8786+226_8786+227insAT
ENST00000638786.2:n.1484+226_1484+227insAT (ATM)
ENST00000682286.1:n.3543+226_3543+227insAT (ATM)
ENST00000682302.1:n.3204+226_3204+227insAT (ATM)
ENST00000683174.1:n.10270+226_10270+227insAT (ATM)
ENST00000683524.1:n.4010+226_4010+227insAT (ATM)
ENST00000684152.1:n.4202+226_4202+227insAT (ATM)
ENST00000684180.1:n.1260+226_1260+227insAT (ATM)
ENST00000684447.1:n.5279+226_5279+227insAT (ATM)
ENST00000527805.6:c.*3850+226_*3850+227insAT (ATM)	ENSP00000435747.2:n.*3850+226_*3850+227insAT
ENST00000675595.1:c.*3921+226_*3921+227insAT (ATM)	ENSP00000502563.1:n.*3921+226_*3921+227insAT
ENST00000675843.1:c.8786+226_8786+227insAT (ATM) MANE Select	ENSP00000501606.1:n.8786+226_8786+227insAT
ENST00000278616.8:c.8786+226_8786+227insAT (ATM)	ENSP00000278616.4:n.8786+226_8786+227insAT
ENST00000452508.6:c.8786+226_8786+227insAT (ATM)	ENSP00000388058.2:n.8786+226_8786+227insAT
ENST00000524755.5:c.227-18815_227-18814insAT (C11orf65)
ENST00000524792.5:n.5001+226_5001+227insAT (ATM)
ENST00000525178.5:n.274+226_274+227insAT (ATM)
ENST00000525729.5:c.640+31813_640+31814insAT (C11orf65)	ENSP00000433395.1:n.640+31813_640+31814insAT
ENST00000526725.1:n.272-13743_272-13742insAT (C11orf65)
ENST00000527181.1:n.125+226_125+227insAT (ATM)
ENST00000527531.5:c.*1196+808_*1196+809insAT (C11orf65)	ENSP00000431706.1:n.*1196+808_*1196+809insAT
ENST00000615746.4:c.*1196+808_*1196+809insAT (C11orf65)	ENSP00000483537.1:n.*1196+808_*1196+809insAT
NM_000051.3:c.8786+226_8786+227insAT , LRG_135t1:c.8786+226_8786+227insAT (ATM)	NP_000042.3:n.8786+226_8786+227insAT
XM_005271414.3:c.788-18815_788-18814insAT (C11orf65)	XP_005271471.1:n.788-18815_788-18814insAT
XM_005271415.3:c.732-18815_732-18814insAT (C11orf65)	XP_005271472.1:n.732-18815_732-18814insAT
XM_005271561.3:c.8786+226_8786+227insAT (ATM)	XP_005271618.2:n.8786+226_8786+227insAT
XM_005271562.3:c.8786+226_8786+227insAT (ATM)	XP_005271619.2:n.8786+226_8786+227insAT
XM_006718843.2:c.8786+226_8786+227insAT (ATM)	XP_006718906.1:n.8786+226_8786+227insAT
XM_006718845.1:c.4742+226_4742+227insAT (ATM)	XP_006718908.1:n.4742+226_4742+227insAT
XM_011542640.1:c.788-13743_788-13742insAT (C11orf65)	XP_011540942.1:n.788-13743_788-13742insAT
XM_011542642.1:c.732-5034_732-5033insAT (C11orf65)	XP_011540944.1:n.732-5034_732-5033insAT
XM_011542643.1:c.732-13743_732-13742insAT (C11orf65)	XP_011540945.1:n.732-13743_732-13742insAT
XM_011542840.1:c.8786+226_8786+227insAT (ATM)	XP_011541142.1:n.8786+226_8786+227insAT
XM_011542841.1:c.8786+226_8786+227insAT (ATM)	XP_011541143.1:n.8786+226_8786+227insAT
XM_011542842.1:c.8621+226_8621+227insAT (ATM)	XP_011541144.1:n.8621+226_8621+227insAT
XM_011542844.1:c.7742+226_7742+227insAT (ATM)	XP_011541146.1:n.7742+226_7742+227insAT
XM_011542845.1:c.7478+226_7478+227insAT (ATM)	XP_011541147.1:n.7478+226_7478+227insAT
XM_011542847.1:c.3857+226_3857+227insAT (ATM)	XP_011541149.1:n.3857+226_3857+227insAT
NM_001330368.1:c.640+31813_640+31814insAT (C11orf65)	NP_001317297.1:n.640+31813_640+31814insAT
NM_001351110.1:c.695-18815_695-18814insAT (C11orf65)	NP_001338039.1:n.695-18815_695-18814insAT
NM_001351834.1:c.8786+226_8786+227insAT (ATM)	NP_001338763.1:n.8786+226_8786+227insAT
NR_147053.2:n.2301+808_2301+809insAT (C11orf65)
XM_005271414.4:c.788-18815_788-18814insAT (C11orf65)	XP_005271471.1:n.788-18815_788-18814insAT
XM_005271415.4:c.732-18815_732-18814insAT (C11orf65)	XP_005271472.1:n.732-18815_732-18814insAT
XM_005271562.5:c.8786+226_8786+227insAT (ATM)	XP_005271619.2:n.8786+226_8786+227insAT
XM_006718843.4:c.8786+226_8786+227insAT (ATM)	XP_006718906.1:n.8786+226_8786+227insAT
XM_006718845.2:c.4742+226_4742+227insAT (ATM)	XP_006718908.1:n.4742+226_4742+227insAT
XM_011542640.2:c.788-13743_788-13742insAT (C11orf65)	XP_011540942.1:n.788-13743_788-13742insAT
XM_011542643.2:c.732-13743_732-13742insAT (C11orf65)	XP_011540945.1:n.732-13743_732-13742insAT
XM_011542840.3:c.8786+226_8786+227insAT (ATM)	XP_011541142.1:n.8786+226_8786+227insAT
XM_011542842.3:c.8621+226_8621+227insAT (ATM)	XP_011541144.1:n.8621+226_8621+227insAT
XM_011542844.3:c.7742+226_7742+227insAT (ATM)	XP_011541146.1:n.7742+226_7742+227insAT
XM_011542845.2:c.7478+226_7478+227insAT (ATM)	XP_011541147.1:n.7478+226_7478+227insAT
XM_017017247.1:c.904-13743_904-13742insAT (C11orf65)	XP_016872736.1:n.904-13743_904-13742insAT
XM_017017789.2:c.8786+226_8786+227insAT (ATM)	XP_016873278.1:n.8786+226_8786+227insAT
XM_017017790.2:c.8786+226_8786+227insAT (ATM)	XP_016873279.1:n.8786+226_8786+227insAT
NM_001330368.2:c.640+31813_640+31814insAT (C11orf65)	NP_001317297.1:n.640+31813_640+31814insAT
NM_001351110.2:c.695-18815_695-18814insAT (C11orf65)	NP_001338039.1:n.695-18815_695-18814insAT
NM_001351834.2:c.8786+226_8786+227insAT (ATM)	NP_001338763.1:n.8786+226_8786+227insAT
NM_000051.4:c.8786+226_8786+227insAT (ATM) MANE Select	NP_000042.3:n.8786+226_8786+227insAT
NR_147053.3:n.2299+808_2299+809insAT (C11orf65)