Canonical Allele Identifier: CA16613455

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 407505
• ClinVar RCV Id: RCV000462151 ; RCV001018316
• dbSNP Id: rs1060501569
• MyVariant Identifiers: chr11:g.108224607_108224610del (hg19) ; chr11:g.108353880_108353883del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353880_108353883del , CM000673.2:g.108353880_108353883del	GRCh38
NC_000011.9:g.108224607_108224610del , CM000673.1:g.108224607_108224610del	GRCh37
NC_000011.8:g.107729817_107729820del	NCBI36
NG_009830.1:g.136049_136052del , LRG_135:g.136049_136052del
NG_054724.1:g.120951_120954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8786_8786+3del (ATM)
ENST00000713593.1:c.*8257_*8257+3del (ATM)
ENST00000278616.9:c.8786_8786+3del (ATM)
ENST00000638786.2:n.1484_1484+3del (ATM)
ENST00000682286.1:n.3543_3543+3del (ATM)
ENST00000682302.1:n.3204_3204+3del (ATM)
ENST00000683174.1:n.10270_10270+3del (ATM)
ENST00000683524.1:n.4010_4010+3del (ATM)
ENST00000684152.1:n.4202_4202+3del (ATM)
ENST00000684180.1:n.1260_1260+3del (ATM)
ENST00000684447.1:n.5279_5279+3del (ATM)
ENST00000527805.6:c.*3850_*3850+3del (ATM)
ENST00000675595.1:c.*3921_*3921+3del (ATM)
ENST00000675843.1:c.8786_8786+3del (ATM)
ENST00000278616.8:c.8786_8786+3del (ATM)
ENST00000452508.6:c.8786_8786+3del (ATM)
ENST00000524755.5:c.227-18590_227-18587del (C11orf65)
ENST00000524792.5:n.5001_5001+3del (ATM)
ENST00000525178.5:n.274_274+3del (ATM)
ENST00000525729.5:c.640+32038_640+32041del (C11orf65)	ENSP00000433395.1:n.640+32038_640+32041de...
ENST00000526725.1:n.272-13518_272-13515del (C11orf65)
ENST00000527181.1:n.125_125+3del (ATM)
ENST00000527531.5:c.*1196+1033_*1196+1036del (C11orf65)	ENSP00000431706.1:n.*1196+1033_*1196+1036...
ENST00000615746.4:c.*1196+1033_*1196+1036del (C11orf65)	ENSP00000483537.1:n.*1196+1033_*1196+1036...
NM_000051.3:c.8786_8786+3del , LRG_135t1:c.8786_8786+3del (ATM)
XM_005271414.3:c.788-18590_788-18587del (C11orf65)	XP_005271471.1:n.788-18590_788-18587del
XM_005271415.3:c.732-18590_732-18587del (C11orf65)	XP_005271472.1:n.732-18590_732-18587del
XM_005271561.3:c.8786_8786+3del (ATM)
XM_005271562.3:c.8786_8786+3del (ATM)
XM_006718843.2:c.8786_8786+3del (ATM)
XM_006718845.1:c.4742_4742+3del (ATM)
XM_011542640.1:c.788-13518_788-13515del (C11orf65)	XP_011540942.1:n.788-13518_788-13515del
XM_011542642.1:c.732-4809_732-4806del (C11orf65)	XP_011540944.1:n.732-4809_732-4806del
XM_011542643.1:c.732-13518_732-13515del (C11orf65)	XP_011540945.1:n.732-13518_732-13515del
XM_011542840.1:c.8786_8786+3del (ATM)
XM_011542841.1:c.8786_8786+3del (ATM)
XM_011542842.1:c.8621_8621+3del (ATM)
XM_011542844.1:c.7742_7742+3del (ATM)
XM_011542845.1:c.7478_7478+3del (ATM)
XM_011542847.1:c.3857_3857+3del (ATM)
NM_001330368.1:c.640+32038_640+32041del (C11orf65)	NP_001317297.1:n.640+32038_640+32041del
NM_001351110.1:c.695-18590_695-18587del (C11orf65)	NP_001338039.1:n.695-18590_695-18587del
NM_001351834.1:c.8786_8786+3del (ATM)
NR_147053.2:n.2301+1033_2301+1036del (C11orf65)
XM_005271414.4:c.788-18590_788-18587del (C11orf65)	XP_005271471.1:n.788-18590_788-18587del
XM_005271415.4:c.732-18590_732-18587del (C11orf65)	XP_005271472.1:n.732-18590_732-18587del
XM_005271562.5:c.8786_8786+3del (ATM)
XM_006718843.4:c.8786_8786+3del (ATM)
XM_006718845.2:c.4742_4742+3del (ATM)
XM_011542640.2:c.788-13518_788-13515del (C11orf65)	XP_011540942.1:n.788-13518_788-13515del
XM_011542643.2:c.732-13518_732-13515del (C11orf65)	XP_011540945.1:n.732-13518_732-13515del
XM_011542840.3:c.8786_8786+3del (ATM)
XM_011542842.3:c.8621_8621+3del (ATM)
XM_011542844.3:c.7742_7742+3del (ATM)
XM_011542845.2:c.7478_7478+3del (ATM)
XM_017017247.1:c.904-13518_904-13515del (C11orf65)	XP_016872736.1:n.904-13518_904-13515del
XM_017017789.2:c.8786_8786+3del (ATM)
XM_017017790.2:c.8786_8786+3del (ATM)
NM_001330368.2:c.640+32038_640+32041del (C11orf65)	NP_001317297.1:n.640+32038_640+32041del
NM_001351110.2:c.695-18590_695-18587del (C11orf65)	NP_001338039.1:n.695-18590_695-18587del
NM_001351834.2:c.8786_8786+3del (ATM)
NM_000051.4:c.8786_8786+3del (ATM)
NR_147053.3:n.2299+1033_2299+1036del (C11orf65)