Canonical Allele Identifier: CA1998820860
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354219C= , CM000673.2:g.108354219C= GRCh38
NC_000011.9:g.108224946C= , CM000673.1:g.108224946C= GRCh37
NC_000011.8:g.107730156C= NCBI36
NG_009830.1:g.136388C= , LRG_135:g.136388C=
NG_054724.1:g.120614G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+339C= (ATM) ENSP00000388058.2:n.8786+339C=
ENST00000713593.1:c.*8257+339C= (ATM) ENSP00000518889.1:n.*8257+339C=
ENST00000278616.9:c.8786+339C= (ATM) ENSP00000278616.4:n.8786+339C=
ENST00000638786.2:n.1484+339C= (ATM)
ENST00000682286.1:n.3543+339C= (ATM)
ENST00000682302.1:n.3204+339C= (ATM)
ENST00000683174.1:n.10270+339C= (ATM)
ENST00000683524.1:n.4010+339C= (ATM)
ENST00000684152.1:n.4202+339C= (ATM)
ENST00000684180.1:n.1260+339C= (ATM)
ENST00000684447.1:n.5279+339C= (ATM)
ENST00000527805.6:c.*3850+339C= (ATM) ENSP00000435747.2:n.*3850+339C=
ENST00000675595.1:c.*3921+339C= (ATM) ENSP00000502563.1:n.*3921+339C=
ENST00000675843.1:c.8786+339C= (ATM) MANE Select ENSP00000501606.1:n.8786+339C=
ENST00000278616.8:c.8786+339C= (ATM) ENSP00000278616.4:n.8786+339C=
ENST00000452508.6:c.8786+339C= (ATM) ENSP00000388058.2:n.8786+339C=
ENST00000524755.5:c.227-18927G= (C11orf65)
ENST00000524792.5:n.5001+339C= (ATM)
ENST00000525178.5:n.274+339C= (ATM)
ENST00000525729.5:c.640+31701G= (C11orf65) ENSP00000433395.1:n.640+31701G=
ENST00000526725.1:n.272-13855G= (C11orf65)
ENST00000527181.1:n.125+339C= (ATM)
ENST00000527531.5:c.*1196+696G= (C11orf65) ENSP00000431706.1:n.*1196+696G=
ENST00000615746.4:c.*1196+696G= (C11orf65) ENSP00000483537.1:n.*1196+696G=
NM_000051.3:c.8786+339C= , LRG_135t1:c.8786+339C= (ATM) NP_000042.3:n.8786+339C=
XM_005271414.3:c.788-18927G= (C11orf65) XP_005271471.1:n.788-18927G=
XM_005271415.3:c.732-18927G= (C11orf65) XP_005271472.1:n.732-18927G=
XM_005271561.3:c.8786+339C= (ATM) XP_005271618.2:n.8786+339C=
XM_005271562.3:c.8786+339C= (ATM) XP_005271619.2:n.8786+339C=
XM_006718843.2:c.8786+339C= (ATM) XP_006718906.1:n.8786+339C=
XM_006718845.1:c.4742+339C= (ATM) XP_006718908.1:n.4742+339C=
XM_011542640.1:c.788-13855G= (C11orf65) XP_011540942.1:n.788-13855G=
XM_011542642.1:c.732-5146G= (C11orf65) XP_011540944.1:n.732-5146G=
XM_011542643.1:c.732-13855G= (C11orf65) XP_011540945.1:n.732-13855G=
XM_011542840.1:c.8786+339C= (ATM) XP_011541142.1:n.8786+339C=
XM_011542841.1:c.8786+339C= (ATM) XP_011541143.1:n.8786+339C=
XM_011542842.1:c.8621+339C= (ATM) XP_011541144.1:n.8621+339C=
XM_011542844.1:c.7742+339C= (ATM) XP_011541146.1:n.7742+339C=
XM_011542845.1:c.7478+339C= (ATM) XP_011541147.1:n.7478+339C=
XM_011542847.1:c.3857+339C= (ATM) XP_011541149.1:n.3857+339C=
NM_001330368.1:c.640+31701G= (C11orf65) NP_001317297.1:n.640+31701G=
NM_001351110.1:c.695-18927G= (C11orf65) NP_001338039.1:n.695-18927G=
NM_001351834.1:c.8786+339C= (ATM) NP_001338763.1:n.8786+339C=
NR_147053.2:n.2301+696G= (C11orf65)
XM_005271414.4:c.788-18927G= (C11orf65) XP_005271471.1:n.788-18927G=
XM_005271415.4:c.732-18927G= (C11orf65) XP_005271472.1:n.732-18927G=
XM_005271562.5:c.8786+339C= (ATM) XP_005271619.2:n.8786+339C=
XM_006718843.4:c.8786+339C= (ATM) XP_006718906.1:n.8786+339C=
XM_006718845.2:c.4742+339C= (ATM) XP_006718908.1:n.4742+339C=
XM_011542640.2:c.788-13855G= (C11orf65) XP_011540942.1:n.788-13855G=
XM_011542643.2:c.732-13855G= (C11orf65) XP_011540945.1:n.732-13855G=
XM_011542840.3:c.8786+339C= (ATM) XP_011541142.1:n.8786+339C=
XM_011542842.3:c.8621+339C= (ATM) XP_011541144.1:n.8621+339C=
XM_011542844.3:c.7742+339C= (ATM) XP_011541146.1:n.7742+339C=
XM_011542845.2:c.7478+339C= (ATM) XP_011541147.1:n.7478+339C=
XM_017017247.1:c.904-13855G= (C11orf65) XP_016872736.1:n.904-13855G=
XM_017017789.2:c.8786+339C= (ATM) XP_016873278.1:n.8786+339C=
XM_017017790.2:c.8786+339C= (ATM) XP_016873279.1:n.8786+339C=
NM_001330368.2:c.640+31701G= (C11orf65) NP_001317297.1:n.640+31701G=
NM_001351110.2:c.695-18927G= (C11orf65) NP_001338039.1:n.695-18927G=
NM_001351834.2:c.8786+339C= (ATM) NP_001338763.1:n.8786+339C=
NM_000051.4:c.8786+339C= (ATM) MANE Select NP_000042.3:n.8786+339C=
NR_147053.3:n.2299+696G= (C11orf65)