Canonical Allele Identifier: CA228374047

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs773731220
• MyVariant Identifiers: chr11:g.108224995_108224997del (hg19) ; chr11:g.108354268_108354270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354272_108354274del , CM000673.2:g.108354272_108354274del	GRCh38
NC_000011.9:g.108224999_108225001del , CM000673.1:g.108224999_108225001del	GRCh37
NC_000011.8:g.107730209_107730211del	NCBI36
NG_009830.1:g.136441_136443del , LRG_135:g.136441_136443del
NG_054724.1:g.120563_120565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+392_8786+394del (ATM)	ENSP00000388058.2:n.8786+392_8786+394del
ENST00000713593.1:c.*8257+392_*8257+394del (ATM)	ENSP00000518889.1:n.*8257+392_*8257+394del
ENST00000278616.9:c.8786+392_8786+394del (ATM)	ENSP00000278616.4:n.8786+392_8786+394del
ENST00000638786.2:n.1484+392_1484+394del (ATM)
ENST00000682286.1:n.3543+392_3543+394del (ATM)
ENST00000682302.1:n.3204+392_3204+394del (ATM)
ENST00000683174.1:n.10270+392_10270+394del (ATM)
ENST00000683524.1:n.4010+392_4010+394del (ATM)
ENST00000684152.1:n.4202+392_4202+394del (ATM)
ENST00000684180.1:n.1260+392_1260+394del (ATM)
ENST00000684447.1:n.5279+392_5279+394del (ATM)
ENST00000527805.6:c.*3850+392_*3850+394del (ATM)	ENSP00000435747.2:n.*3850+392_*3850+394del
ENST00000675595.1:c.*3921+392_*3921+394del (ATM)	ENSP00000502563.1:n.*3921+392_*3921+394del
ENST00000675843.1:c.8786+392_8786+394del (ATM) MANE Select	ENSP00000501606.1:n.8786+392_8786+394del
ENST00000278616.8:c.8786+392_8786+394del (ATM)	ENSP00000278616.4:n.8786+392_8786+394del
ENST00000452508.6:c.8786+392_8786+394del (ATM)	ENSP00000388058.2:n.8786+392_8786+394del
ENST00000524755.5:c.227-18978_227-18976del (C11orf65)
ENST00000524792.5:n.5001+392_5001+394del (ATM)
ENST00000525178.5:n.274+392_274+394del (ATM)
ENST00000525729.5:c.640+31650_640+31652del (C11orf65)	ENSP00000433395.1:n.640+31650_640+31652del
ENST00000526725.1:n.272-13906_272-13904del (C11orf65)
ENST00000527181.1:n.125+392_125+394del (ATM)
ENST00000527531.5:c.*1196+645_*1196+647del (C11orf65)	ENSP00000431706.1:n.*1196+645_*1196+647del
ENST00000615746.4:c.*1196+645_*1196+647del (C11orf65)	ENSP00000483537.1:n.*1196+645_*1196+647del
NM_000051.3:c.8786+392_8786+394del , LRG_135t1:c.8786+392_8786+394del (ATM)	NP_000042.3:n.8786+392_8786+394del
XM_005271414.3:c.788-18978_788-18976del (C11orf65)	XP_005271471.1:n.788-18978_788-18976del
XM_005271415.3:c.732-18978_732-18976del (C11orf65)	XP_005271472.1:n.732-18978_732-18976del
XM_005271561.3:c.8786+392_8786+394del (ATM)	XP_005271618.2:n.8786+392_8786+394del
XM_005271562.3:c.8786+392_8786+394del (ATM)	XP_005271619.2:n.8786+392_8786+394del
XM_006718843.2:c.8786+392_8786+394del (ATM)	XP_006718906.1:n.8786+392_8786+394del
XM_006718845.1:c.4742+392_4742+394del (ATM)	XP_006718908.1:n.4742+392_4742+394del
XM_011542640.1:c.788-13906_788-13904del (C11orf65)	XP_011540942.1:n.788-13906_788-13904del
XM_011542642.1:c.732-5197_732-5195del (C11orf65)	XP_011540944.1:n.732-5197_732-5195del
XM_011542643.1:c.732-13906_732-13904del (C11orf65)	XP_011540945.1:n.732-13906_732-13904del
XM_011542840.1:c.8786+392_8786+394del (ATM)	XP_011541142.1:n.8786+392_8786+394del
XM_011542841.1:c.8786+392_8786+394del (ATM)	XP_011541143.1:n.8786+392_8786+394del
XM_011542842.1:c.8621+392_8621+394del (ATM)	XP_011541144.1:n.8621+392_8621+394del
XM_011542844.1:c.7742+392_7742+394del (ATM)	XP_011541146.1:n.7742+392_7742+394del
XM_011542845.1:c.7478+392_7478+394del (ATM)	XP_011541147.1:n.7478+392_7478+394del
XM_011542847.1:c.3857+392_3857+394del (ATM)	XP_011541149.1:n.3857+392_3857+394del
NM_001330368.1:c.640+31650_640+31652del (C11orf65)	NP_001317297.1:n.640+31650_640+31652del
NM_001351110.1:c.695-18978_695-18976del (C11orf65)	NP_001338039.1:n.695-18978_695-18976del
NM_001351834.1:c.8786+392_8786+394del (ATM)	NP_001338763.1:n.8786+392_8786+394del
NR_147053.2:n.2301+645_2301+647del (C11orf65)
XM_005271414.4:c.788-18978_788-18976del (C11orf65)	XP_005271471.1:n.788-18978_788-18976del
XM_005271415.4:c.732-18978_732-18976del (C11orf65)	XP_005271472.1:n.732-18978_732-18976del
XM_005271562.5:c.8786+392_8786+394del (ATM)	XP_005271619.2:n.8786+392_8786+394del
XM_006718843.4:c.8786+392_8786+394del (ATM)	XP_006718906.1:n.8786+392_8786+394del
XM_006718845.2:c.4742+392_4742+394del (ATM)	XP_006718908.1:n.4742+392_4742+394del
XM_011542640.2:c.788-13906_788-13904del (C11orf65)	XP_011540942.1:n.788-13906_788-13904del
XM_011542643.2:c.732-13906_732-13904del (C11orf65)	XP_011540945.1:n.732-13906_732-13904del
XM_011542840.3:c.8786+392_8786+394del (ATM)	XP_011541142.1:n.8786+392_8786+394del
XM_011542842.3:c.8621+392_8621+394del (ATM)	XP_011541144.1:n.8621+392_8621+394del
XM_011542844.3:c.7742+392_7742+394del (ATM)	XP_011541146.1:n.7742+392_7742+394del
XM_011542845.2:c.7478+392_7478+394del (ATM)	XP_011541147.1:n.7478+392_7478+394del
XM_017017247.1:c.904-13906_904-13904del (C11orf65)	XP_016872736.1:n.904-13906_904-13904del
XM_017017789.2:c.8786+392_8786+394del (ATM)	XP_016873278.1:n.8786+392_8786+394del
XM_017017790.2:c.8786+392_8786+394del (ATM)	XP_016873279.1:n.8786+392_8786+394del
NM_001330368.2:c.640+31650_640+31652del (C11orf65)	NP_001317297.1:n.640+31650_640+31652del
NM_001351110.2:c.695-18978_695-18976del (C11orf65)	NP_001338039.1:n.695-18978_695-18976del
NM_001351834.2:c.8786+392_8786+394del (ATM)	NP_001338763.1:n.8786+392_8786+394del
NM_000051.4:c.8786+392_8786+394del (ATM) MANE Select	NP_000042.3:n.8786+392_8786+394del
NR_147053.3:n.2299+645_2299+647del (C11orf65)