Canonical Allele Identifier: CA671414756

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs71047689
• gnomAD v3: 11-108354070-A-AACACACACACACAC
• gnomAD v4: 11-108354070-A-AACACACACACACAC
• MyVariant Identifiers: chr11:g.108224797_108224798insACACACACACACAC (hg19) ; chr11:g.108354070_108354071insACACACACACACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354093_108354106dup , CM000673.2:g.108354093_108354106dup	GRCh38
NC_000011.9:g.108224820_108224833dup , CM000673.1:g.108224820_108224833dup	GRCh37
NC_000011.8:g.107730030_107730043dup	NCBI36
NG_009830.1:g.136262_136275dup , LRG_135:g.136262_136275dup
NG_054724.1:g.120749_120762dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+213_8786+226dup (ATM)	ENSP00000388058.2:n.8786+213_8786+226dup
ENST00000713593.1:c.*8257+213_*8257+226dup (ATM)	ENSP00000518889.1:n.*8257+213_*8257+226dup
ENST00000278616.9:c.8786+213_8786+226dup (ATM)	ENSP00000278616.4:n.8786+213_8786+226dup
ENST00000638786.2:n.1484+213_1484+226dup (ATM)
ENST00000682286.1:n.3543+213_3543+226dup (ATM)
ENST00000682302.1:n.3204+213_3204+226dup (ATM)
ENST00000683174.1:n.10270+213_10270+226dup (ATM)
ENST00000683524.1:n.4010+213_4010+226dup (ATM)
ENST00000684152.1:n.4202+213_4202+226dup (ATM)
ENST00000684180.1:n.1260+213_1260+226dup (ATM)
ENST00000684447.1:n.5279+213_5279+226dup (ATM)
ENST00000527805.6:c.*3850+213_*3850+226dup (ATM)	ENSP00000435747.2:n.*3850+213_*3850+226dup
ENST00000675595.1:c.*3921+213_*3921+226dup (ATM)	ENSP00000502563.1:n.*3921+213_*3921+226dup
ENST00000675843.1:c.8786+213_8786+226dup (ATM) MANE Select	ENSP00000501606.1:n.8786+213_8786+226dup
ENST00000278616.8:c.8786+213_8786+226dup (ATM)	ENSP00000278616.4:n.8786+213_8786+226dup
ENST00000452508.6:c.8786+213_8786+226dup (ATM)	ENSP00000388058.2:n.8786+213_8786+226dup
ENST00000524755.5:c.227-18792_227-18779dup (C11orf65)
ENST00000524792.5:n.5001+213_5001+226dup (ATM)
ENST00000525178.5:n.274+213_274+226dup (ATM)
ENST00000525729.5:c.640+31836_640+31849dup (C11orf65)	ENSP00000433395.1:n.640+31836_640+31849dup
ENST00000526725.1:n.272-13720_272-13707dup (C11orf65)
ENST00000527181.1:n.125+213_125+226dup (ATM)
ENST00000527531.5:c.*1196+831_*1196+844dup (C11orf65)	ENSP00000431706.1:n.*1196+831_*1196+844dup
ENST00000615746.4:c.*1196+831_*1196+844dup (C11orf65)	ENSP00000483537.1:n.*1196+831_*1196+844dup
NM_000051.3:c.8786+213_8786+226dup , LRG_135t1:c.8786+213_8786+226dup (ATM)	NP_000042.3:n.8786+213_8786+226dup
XM_005271414.3:c.788-18792_788-18779dup (C11orf65)	XP_005271471.1:n.788-18792_788-18779dup
XM_005271415.3:c.732-18792_732-18779dup (C11orf65)	XP_005271472.1:n.732-18792_732-18779dup
XM_005271561.3:c.8786+213_8786+226dup (ATM)	XP_005271618.2:n.8786+213_8786+226dup
XM_005271562.3:c.8786+213_8786+226dup (ATM)	XP_005271619.2:n.8786+213_8786+226dup
XM_006718843.2:c.8786+213_8786+226dup (ATM)	XP_006718906.1:n.8786+213_8786+226dup
XM_006718845.1:c.4742+213_4742+226dup (ATM)	XP_006718908.1:n.4742+213_4742+226dup
XM_011542640.1:c.788-13720_788-13707dup (C11orf65)	XP_011540942.1:n.788-13720_788-13707dup
XM_011542642.1:c.732-5011_732-4998dup (C11orf65)	XP_011540944.1:n.732-5011_732-4998dup
XM_011542643.1:c.732-13720_732-13707dup (C11orf65)	XP_011540945.1:n.732-13720_732-13707dup
XM_011542840.1:c.8786+213_8786+226dup (ATM)	XP_011541142.1:n.8786+213_8786+226dup
XM_011542841.1:c.8786+213_8786+226dup (ATM)	XP_011541143.1:n.8786+213_8786+226dup
XM_011542842.1:c.8621+213_8621+226dup (ATM)	XP_011541144.1:n.8621+213_8621+226dup
XM_011542844.1:c.7742+213_7742+226dup (ATM)	XP_011541146.1:n.7742+213_7742+226dup
XM_011542845.1:c.7478+213_7478+226dup (ATM)	XP_011541147.1:n.7478+213_7478+226dup
XM_011542847.1:c.3857+213_3857+226dup (ATM)	XP_011541149.1:n.3857+213_3857+226dup
NM_001330368.1:c.640+31836_640+31849dup (C11orf65)	NP_001317297.1:n.640+31836_640+31849dup
NM_001351110.1:c.695-18792_695-18779dup (C11orf65)	NP_001338039.1:n.695-18792_695-18779dup
NM_001351834.1:c.8786+213_8786+226dup (ATM)	NP_001338763.1:n.8786+213_8786+226dup
NR_147053.2:n.2301+831_2301+844dup (C11orf65)
XM_005271414.4:c.788-18792_788-18779dup (C11orf65)	XP_005271471.1:n.788-18792_788-18779dup
XM_005271415.4:c.732-18792_732-18779dup (C11orf65)	XP_005271472.1:n.732-18792_732-18779dup
XM_005271562.5:c.8786+213_8786+226dup (ATM)	XP_005271619.2:n.8786+213_8786+226dup
XM_006718843.4:c.8786+213_8786+226dup (ATM)	XP_006718906.1:n.8786+213_8786+226dup
XM_006718845.2:c.4742+213_4742+226dup (ATM)	XP_006718908.1:n.4742+213_4742+226dup
XM_011542640.2:c.788-13720_788-13707dup (C11orf65)	XP_011540942.1:n.788-13720_788-13707dup
XM_011542643.2:c.732-13720_732-13707dup (C11orf65)	XP_011540945.1:n.732-13720_732-13707dup
XM_011542840.3:c.8786+213_8786+226dup (ATM)	XP_011541142.1:n.8786+213_8786+226dup
XM_011542842.3:c.8621+213_8621+226dup (ATM)	XP_011541144.1:n.8621+213_8621+226dup
XM_011542844.3:c.7742+213_7742+226dup (ATM)	XP_011541146.1:n.7742+213_7742+226dup
XM_011542845.2:c.7478+213_7478+226dup (ATM)	XP_011541147.1:n.7478+213_7478+226dup
XM_017017247.1:c.904-13720_904-13707dup (C11orf65)	XP_016872736.1:n.904-13720_904-13707dup
XM_017017789.2:c.8786+213_8786+226dup (ATM)	XP_016873278.1:n.8786+213_8786+226dup
XM_017017790.2:c.8786+213_8786+226dup (ATM)	XP_016873279.1:n.8786+213_8786+226dup
NM_001330368.2:c.640+31836_640+31849dup (C11orf65)	NP_001317297.1:n.640+31836_640+31849dup
NM_001351110.2:c.695-18792_695-18779dup (C11orf65)	NP_001338039.1:n.695-18792_695-18779dup
NM_001351834.2:c.8786+213_8786+226dup (ATM)	NP_001338763.1:n.8786+213_8786+226dup
NM_000051.4:c.8786+213_8786+226dup (ATM) MANE Select	NP_000042.3:n.8786+213_8786+226dup
NR_147053.3:n.2299+831_2299+844dup (C11orf65)