Canonical Allele Identifier: CA601699194

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1555143117
• gnomAD v2: 11-108224809-C-CACACACAT
• gnomAD v3: 11-108354082-C-CACACACAT
• gnomAD v4: 11-108354082-C-CACACACAT
• MyVariant Identifiers: chr11:g.108224809_108224810insACACACAT (hg19) ; chr11:g.108354082_108354083insACACACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354089_108354090insTACACACA , CM000673.2:g.108354089_108354090insTACACACA	GRCh38
NC_000011.9:g.108224816_108224817insTACACACA , CM000673.1:g.108224816_108224817insTACACACA	GRCh37
NC_000011.8:g.107730026_107730027insTACACACA	NCBI36
NG_009830.1:g.136258_136259insTACACACA , LRG_135:g.136258_136259insTACACACA
NG_054724.1:g.120750_120751insATGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+209_8786+210insTACACACA (ATM)	ENSP00000388058.2:n.8786+209_8786+210insTACACACA
ENST00000713593.1:c.*8257+209_*8257+210insTACACACA (ATM)	ENSP00000518889.1:n.*8257+209_*8257+210insTACACACA
ENST00000278616.9:c.8786+209_8786+210insTACACACA (ATM)	ENSP00000278616.4:n.8786+209_8786+210insTACACACA
ENST00000638786.2:n.1484+209_1484+210insTACACACA (ATM)
ENST00000682286.1:n.3543+209_3543+210insTACACACA (ATM)
ENST00000682302.1:n.3204+209_3204+210insTACACACA (ATM)
ENST00000683174.1:n.10270+209_10270+210insTACACACA (ATM)
ENST00000683524.1:n.4010+209_4010+210insTACACACA (ATM)
ENST00000684152.1:n.4202+209_4202+210insTACACACA (ATM)
ENST00000684180.1:n.1260+209_1260+210insTACACACA (ATM)
ENST00000684447.1:n.5279+209_5279+210insTACACACA (ATM)
ENST00000527805.6:c.*3850+209_*3850+210insTACACACA (ATM)	ENSP00000435747.2:n.*3850+209_*3850+210insTACACACA
ENST00000675595.1:c.*3921+209_*3921+210insTACACACA (ATM)	ENSP00000502563.1:n.*3921+209_*3921+210insTACACACA
ENST00000675843.1:c.8786+209_8786+210insTACACACA (ATM) MANE Select	ENSP00000501606.1:n.8786+209_8786+210insTACACACA
ENST00000278616.8:c.8786+209_8786+210insTACACACA (ATM)	ENSP00000278616.4:n.8786+209_8786+210insTACACACA
ENST00000452508.6:c.8786+209_8786+210insTACACACA (ATM)	ENSP00000388058.2:n.8786+209_8786+210insTACACACA
ENST00000524755.5:c.227-18791_227-18790insATGTGTGT (C11orf65)
ENST00000524792.5:n.5001+209_5001+210insTACACACA (ATM)
ENST00000525178.5:n.274+209_274+210insTACACACA (ATM)
ENST00000525729.5:c.640+31837_640+31838insATGTGTGT (C11orf65)	ENSP00000433395.1:n.640+31837_640+31838insATGTGTGT
ENST00000526725.1:n.272-13719_272-13718insATGTGTGT (C11orf65)
ENST00000527181.1:n.125+209_125+210insTACACACA (ATM)
ENST00000527531.5:c.*1196+832_*1196+833insATGTGTGT (C11orf65)	ENSP00000431706.1:n.*1196+832_*1196+833insATGTGTGT
ENST00000615746.4:c.*1196+832_*1196+833insATGTGTGT (C11orf65)	ENSP00000483537.1:n.*1196+832_*1196+833insATGTGTGT
NM_000051.3:c.8786+209_8786+210insTACACACA , LRG_135t1:c.8786+209_8786+210insTACACACA (ATM)	NP_000042.3:n.8786+209_8786+210insTACACACA
XM_005271414.3:c.788-18791_788-18790insATGTGTGT (C11orf65)	XP_005271471.1:n.788-18791_788-18790insATGTGTGT
XM_005271415.3:c.732-18791_732-18790insATGTGTGT (C11orf65)	XP_005271472.1:n.732-18791_732-18790insATGTGTGT
XM_005271561.3:c.8786+209_8786+210insTACACACA (ATM)	XP_005271618.2:n.8786+209_8786+210insTACACACA
XM_005271562.3:c.8786+209_8786+210insTACACACA (ATM)	XP_005271619.2:n.8786+209_8786+210insTACACACA
XM_006718843.2:c.8786+209_8786+210insTACACACA (ATM)	XP_006718906.1:n.8786+209_8786+210insTACACACA
XM_006718845.1:c.4742+209_4742+210insTACACACA (ATM)	XP_006718908.1:n.4742+209_4742+210insTACACACA
XM_011542640.1:c.788-13719_788-13718insATGTGTGT (C11orf65)	XP_011540942.1:n.788-13719_788-13718insATGTGTGT
XM_011542642.1:c.732-5010_732-5009insATGTGTGT (C11orf65)	XP_011540944.1:n.732-5010_732-5009insATGTGTGT
XM_011542643.1:c.732-13719_732-13718insATGTGTGT (C11orf65)	XP_011540945.1:n.732-13719_732-13718insATGTGTGT
XM_011542840.1:c.8786+209_8786+210insTACACACA (ATM)	XP_011541142.1:n.8786+209_8786+210insTACACACA
XM_011542841.1:c.8786+209_8786+210insTACACACA (ATM)	XP_011541143.1:n.8786+209_8786+210insTACACACA
XM_011542842.1:c.8621+209_8621+210insTACACACA (ATM)	XP_011541144.1:n.8621+209_8621+210insTACACACA
XM_011542844.1:c.7742+209_7742+210insTACACACA (ATM)	XP_011541146.1:n.7742+209_7742+210insTACACACA
XM_011542845.1:c.7478+209_7478+210insTACACACA (ATM)	XP_011541147.1:n.7478+209_7478+210insTACACACA
XM_011542847.1:c.3857+209_3857+210insTACACACA (ATM)	XP_011541149.1:n.3857+209_3857+210insTACACACA
NM_001330368.1:c.640+31837_640+31838insATGTGTGT (C11orf65)	NP_001317297.1:n.640+31837_640+31838insATGTGTGT
NM_001351110.1:c.695-18791_695-18790insATGTGTGT (C11orf65)	NP_001338039.1:n.695-18791_695-18790insATGTGTGT
NM_001351834.1:c.8786+209_8786+210insTACACACA (ATM)	NP_001338763.1:n.8786+209_8786+210insTACACACA
NR_147053.2:n.2301+832_2301+833insATGTGTGT (C11orf65)
XM_005271414.4:c.788-18791_788-18790insATGTGTGT (C11orf65)	XP_005271471.1:n.788-18791_788-18790insATGTGTGT
XM_005271415.4:c.732-18791_732-18790insATGTGTGT (C11orf65)	XP_005271472.1:n.732-18791_732-18790insATGTGTGT
XM_005271562.5:c.8786+209_8786+210insTACACACA (ATM)	XP_005271619.2:n.8786+209_8786+210insTACACACA
XM_006718843.4:c.8786+209_8786+210insTACACACA (ATM)	XP_006718906.1:n.8786+209_8786+210insTACACACA
XM_006718845.2:c.4742+209_4742+210insTACACACA (ATM)	XP_006718908.1:n.4742+209_4742+210insTACACACA
XM_011542640.2:c.788-13719_788-13718insATGTGTGT (C11orf65)	XP_011540942.1:n.788-13719_788-13718insATGTGTGT
XM_011542643.2:c.732-13719_732-13718insATGTGTGT (C11orf65)	XP_011540945.1:n.732-13719_732-13718insATGTGTGT
XM_011542840.3:c.8786+209_8786+210insTACACACA (ATM)	XP_011541142.1:n.8786+209_8786+210insTACACACA
XM_011542842.3:c.8621+209_8621+210insTACACACA (ATM)	XP_011541144.1:n.8621+209_8621+210insTACACACA
XM_011542844.3:c.7742+209_7742+210insTACACACA (ATM)	XP_011541146.1:n.7742+209_7742+210insTACACACA
XM_011542845.2:c.7478+209_7478+210insTACACACA (ATM)	XP_011541147.1:n.7478+209_7478+210insTACACACA
XM_017017247.1:c.904-13719_904-13718insATGTGTGT (C11orf65)	XP_016872736.1:n.904-13719_904-13718insATGTGTGT
XM_017017789.2:c.8786+209_8786+210insTACACACA (ATM)	XP_016873278.1:n.8786+209_8786+210insTACACACA
XM_017017790.2:c.8786+209_8786+210insTACACACA (ATM)	XP_016873279.1:n.8786+209_8786+210insTACACACA
NM_001330368.2:c.640+31837_640+31838insATGTGTGT (C11orf65)	NP_001317297.1:n.640+31837_640+31838insATGTGTGT
NM_001351110.2:c.695-18791_695-18790insATGTGTGT (C11orf65)	NP_001338039.1:n.695-18791_695-18790insATGTGTGT
NM_001351834.2:c.8786+209_8786+210insTACACACA (ATM)	NP_001338763.1:n.8786+209_8786+210insTACACACA
NM_000051.4:c.8786+209_8786+210insTACACACA (ATM) MANE Select	NP_000042.3:n.8786+209_8786+210insTACACACA
NR_147053.3:n.2299+832_2299+833insATGTGTGT (C11orf65)