Canonical Allele Identifier: CA671414812

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1555143115
• gnomAD v3: 11-108354082-C-CAT
• gnomAD v4: 11-108354082-C-CAT
• MyVariant Identifiers: chr11:g.108224809_108224810insAT (hg19) ; chr11:g.108354082_108354083insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354083_108354084insTA , CM000673.2:g.108354083_108354084insTA	GRCh38
NC_000011.9:g.108224810_108224811insTA , CM000673.1:g.108224810_108224811insTA	GRCh37
NC_000011.8:g.107730020_107730021insTA	NCBI36
NG_009830.1:g.136252_136253insTA , LRG_135:g.136252_136253insTA
NG_054724.1:g.120750_120751insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+203_8786+204insTA (ATM)	ENSP00000388058.2:n.8786+203_8786+204insTA
ENST00000713593.1:c.*8257+203_*8257+204insTA (ATM)	ENSP00000518889.1:n.*8257+203_*8257+204insTA
ENST00000278616.9:c.8786+203_8786+204insTA (ATM)	ENSP00000278616.4:n.8786+203_8786+204insTA
ENST00000638786.2:n.1484+203_1484+204insTA (ATM)
ENST00000682286.1:n.3543+203_3543+204insTA (ATM)
ENST00000682302.1:n.3204+203_3204+204insTA (ATM)
ENST00000683174.1:n.10270+203_10270+204insTA (ATM)
ENST00000683524.1:n.4010+203_4010+204insTA (ATM)
ENST00000684152.1:n.4202+203_4202+204insTA (ATM)
ENST00000684180.1:n.1260+203_1260+204insTA (ATM)
ENST00000684447.1:n.5279+203_5279+204insTA (ATM)
ENST00000527805.6:c.*3850+203_*3850+204insTA (ATM)	ENSP00000435747.2:n.*3850+203_*3850+204insTA
ENST00000675595.1:c.*3921+203_*3921+204insTA (ATM)	ENSP00000502563.1:n.*3921+203_*3921+204insTA
ENST00000675843.1:c.8786+203_8786+204insTA (ATM) MANE Select	ENSP00000501606.1:n.8786+203_8786+204insTA
ENST00000278616.8:c.8786+203_8786+204insTA (ATM)	ENSP00000278616.4:n.8786+203_8786+204insTA
ENST00000452508.6:c.8786+203_8786+204insTA (ATM)	ENSP00000388058.2:n.8786+203_8786+204insTA
ENST00000524755.5:c.227-18791_227-18790insAT (C11orf65)
ENST00000524792.5:n.5001+203_5001+204insTA (ATM)
ENST00000525178.5:n.274+203_274+204insTA (ATM)
ENST00000525729.5:c.640+31837_640+31838insAT (C11orf65)	ENSP00000433395.1:n.640+31837_640+31838insAT
ENST00000526725.1:n.272-13719_272-13718insAT (C11orf65)
ENST00000527181.1:n.125+203_125+204insTA (ATM)
ENST00000527531.5:c.*1196+832_*1196+833insAT (C11orf65)	ENSP00000431706.1:n.*1196+832_*1196+833insAT
ENST00000615746.4:c.*1196+832_*1196+833insAT (C11orf65)	ENSP00000483537.1:n.*1196+832_*1196+833insAT
NM_000051.3:c.8786+203_8786+204insTA , LRG_135t1:c.8786+203_8786+204insTA (ATM)	NP_000042.3:n.8786+203_8786+204insTA
XM_005271414.3:c.788-18791_788-18790insAT (C11orf65)	XP_005271471.1:n.788-18791_788-18790insAT
XM_005271415.3:c.732-18791_732-18790insAT (C11orf65)	XP_005271472.1:n.732-18791_732-18790insAT
XM_005271561.3:c.8786+203_8786+204insTA (ATM)	XP_005271618.2:n.8786+203_8786+204insTA
XM_005271562.3:c.8786+203_8786+204insTA (ATM)	XP_005271619.2:n.8786+203_8786+204insTA
XM_006718843.2:c.8786+203_8786+204insTA (ATM)	XP_006718906.1:n.8786+203_8786+204insTA
XM_006718845.1:c.4742+203_4742+204insTA (ATM)	XP_006718908.1:n.4742+203_4742+204insTA
XM_011542640.1:c.788-13719_788-13718insAT (C11orf65)	XP_011540942.1:n.788-13719_788-13718insAT
XM_011542642.1:c.732-5010_732-5009insAT (C11orf65)	XP_011540944.1:n.732-5010_732-5009insAT
XM_011542643.1:c.732-13719_732-13718insAT (C11orf65)	XP_011540945.1:n.732-13719_732-13718insAT
XM_011542840.1:c.8786+203_8786+204insTA (ATM)	XP_011541142.1:n.8786+203_8786+204insTA
XM_011542841.1:c.8786+203_8786+204insTA (ATM)	XP_011541143.1:n.8786+203_8786+204insTA
XM_011542842.1:c.8621+203_8621+204insTA (ATM)	XP_011541144.1:n.8621+203_8621+204insTA
XM_011542844.1:c.7742+203_7742+204insTA (ATM)	XP_011541146.1:n.7742+203_7742+204insTA
XM_011542845.1:c.7478+203_7478+204insTA (ATM)	XP_011541147.1:n.7478+203_7478+204insTA
XM_011542847.1:c.3857+203_3857+204insTA (ATM)	XP_011541149.1:n.3857+203_3857+204insTA
NM_001330368.1:c.640+31837_640+31838insAT (C11orf65)	NP_001317297.1:n.640+31837_640+31838insAT
NM_001351110.1:c.695-18791_695-18790insAT (C11orf65)	NP_001338039.1:n.695-18791_695-18790insAT
NM_001351834.1:c.8786+203_8786+204insTA (ATM)	NP_001338763.1:n.8786+203_8786+204insTA
NR_147053.2:n.2301+832_2301+833insAT (C11orf65)
XM_005271414.4:c.788-18791_788-18790insAT (C11orf65)	XP_005271471.1:n.788-18791_788-18790insAT
XM_005271415.4:c.732-18791_732-18790insAT (C11orf65)	XP_005271472.1:n.732-18791_732-18790insAT
XM_005271562.5:c.8786+203_8786+204insTA (ATM)	XP_005271619.2:n.8786+203_8786+204insTA
XM_006718843.4:c.8786+203_8786+204insTA (ATM)	XP_006718906.1:n.8786+203_8786+204insTA
XM_006718845.2:c.4742+203_4742+204insTA (ATM)	XP_006718908.1:n.4742+203_4742+204insTA
XM_011542640.2:c.788-13719_788-13718insAT (C11orf65)	XP_011540942.1:n.788-13719_788-13718insAT
XM_011542643.2:c.732-13719_732-13718insAT (C11orf65)	XP_011540945.1:n.732-13719_732-13718insAT
XM_011542840.3:c.8786+203_8786+204insTA (ATM)	XP_011541142.1:n.8786+203_8786+204insTA
XM_011542842.3:c.8621+203_8621+204insTA (ATM)	XP_011541144.1:n.8621+203_8621+204insTA
XM_011542844.3:c.7742+203_7742+204insTA (ATM)	XP_011541146.1:n.7742+203_7742+204insTA
XM_011542845.2:c.7478+203_7478+204insTA (ATM)	XP_011541147.1:n.7478+203_7478+204insTA
XM_017017247.1:c.904-13719_904-13718insAT (C11orf65)	XP_016872736.1:n.904-13719_904-13718insAT
XM_017017789.2:c.8786+203_8786+204insTA (ATM)	XP_016873278.1:n.8786+203_8786+204insTA
XM_017017790.2:c.8786+203_8786+204insTA (ATM)	XP_016873279.1:n.8786+203_8786+204insTA
NM_001330368.2:c.640+31837_640+31838insAT (C11orf65)	NP_001317297.1:n.640+31837_640+31838insAT
NM_001351110.2:c.695-18791_695-18790insAT (C11orf65)	NP_001338039.1:n.695-18791_695-18790insAT
NM_001351834.2:c.8786+203_8786+204insTA (ATM)	NP_001338763.1:n.8786+203_8786+204insTA
NM_000051.4:c.8786+203_8786+204insTA (ATM) MANE Select	NP_000042.3:n.8786+203_8786+204insTA
NR_147053.3:n.2299+832_2299+833insAT (C11orf65)