Canonical Allele Identifier: CA349494
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 219594
dbSNP Id: rs745775382
COSMIC: COSM12791
CIViC: CA349494

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108333954A>G , CM000673.2:g.108333954A>G GRCh38
NC_000011.9:g.108204681A>G , CM000673.1:g.108204681A>G GRCh37
NC_000011.8:g.107709891A>G NCBI36
NG_009830.1:g.116123A>G , LRG_135:g.116123A>G
NG_054724.1:g.140879T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7996A>G (ATM) ENSP00000388058.2:p.Thr2666Ala
ENST00000713593.1:c.*7467A>G (ATM) ENSP00000518889.1:n.*7467A>G
ENST00000278616.9:c.7996A>G (ATM) ENSP00000278616.4:p.Thr2666Ala
ENST00000525056.2:n.2415A>G (ATM)
ENST00000638786.2:n.694A>G (ATM)
ENST00000682286.1:n.2753A>G (ATM)
ENST00000682302.1:n.2414A>G (ATM)
ENST00000683174.1:n.9480A>G (ATM)
ENST00000683524.1:n.3220A>G (ATM)
ENST00000684152.1:n.3412A>G (ATM)
ENST00000684180.1:n.470A>G (ATM)
ENST00000684447.1:n.4489A>G (ATM)
ENST00000527805.6:c.*3060A>G (ATM) ENSP00000435747.2:n.*3060A>G
ENST00000675595.1:c.*3131A>G (ATM) ENSP00000502563.1:n.*3131A>G
ENST00000675843.1:c.7996A>G (ATM) MANE Select ENSP00000501606.1:p.Thr2666Ala
ENST00000278616.8:c.7996A>G (ATM) ENSP00000278616.4:p.Thr2666Ala
ENST00000452508.6:c.7996A>G (ATM) ENSP00000388058.2:p.Thr2666Ala
ENST00000524755.5:c.299+1266T>C (C11orf65)
ENST00000524792.5:n.4211A>G (ATM)
ENST00000525056.1:n.193A>G (ATM)
ENST00000525729.5:c.641-24883T>C (C11orf65) ENSP00000433395.1:n.641-24883T>C
ENST00000527531.5:c.*1269+1266T>C (C11orf65) ENSP00000431706.1:n.*1269+1266T>C
ENST00000533979.5:n.208A>G (ATM)
ENST00000615746.4:c.*1269+1266T>C (C11orf65) ENSP00000483537.1:n.*1269+1266T>C
NM_000051.3:c.7996A>G , LRG_135t1:c.7996A>G (ATM) NP_000042.3:p.Thr2666Ala
XM_005271414.3:c.*38+1266T>C (C11orf65) XP_005271471.1:n.*38+1266T>C
XM_005271415.3:c.804+1266T>C (C11orf65) XP_005271472.1:n.804+1266T>C
XM_005271561.3:c.7996A>G (ATM) XP_005271618.2:p.Thr2666Ala
XM_005271562.3:c.7996A>G (ATM) XP_005271619.2:p.Thr2666Ala
XM_006718843.2:c.7996A>G (ATM) XP_006718906.1:p.Thr2666Ala
XM_006718845.1:c.3952A>G (ATM) XP_006718908.1:p.Thr1318Ala
XM_011542840.1:c.7996A>G (ATM) XP_011541142.1:p.Thr2666Ala
XM_011542841.1:c.7996A>G (ATM) XP_011541143.1:p.Thr2666Ala
XM_011542842.1:c.7831A>G (ATM) XP_011541144.1:p.Thr2611Ala
XM_011542843.1:c.7996A>G (ATM) XP_011541145.1:p.Thr2666Ala
XM_011542844.1:c.6952A>G (ATM) XP_011541146.1:p.Thr2318Ala
XM_011542845.1:c.6688A>G (ATM) XP_011541147.1:p.Thr2230Ala
XM_011542847.1:c.3067A>G (ATM) XP_011541149.1:p.Thr1023Ala
NM_001330368.1:c.641-24883T>C (C11orf65) NP_001317297.1:n.641-24883T>C
NM_001351110.1:c.*38+1266T>C (C11orf65) NP_001338039.1:n.*38+1266T>C
NM_001351834.1:c.7996A>G (ATM) NP_001338763.1:p.Thr2666Ala
NR_147053.2:n.2374+1266T>C (C11orf65)
XM_005271414.4:c.*38+1266T>C (C11orf65) XP_005271471.1:n.*38+1266T>C
XM_005271415.4:c.804+1266T>C (C11orf65) XP_005271472.1:n.804+1266T>C
XM_005271562.5:c.7996A>G (ATM) XP_005271619.2:p.Thr2666Ala
XM_006718843.4:c.7996A>G (ATM) XP_006718906.1:p.Thr2666Ala
XM_006718845.2:c.3952A>G (ATM) XP_006718908.1:p.Thr1318Ala
XM_011542840.3:c.7996A>G (ATM) XP_011541142.1:p.Thr2666Ala
XM_011542842.3:c.7831A>G (ATM) XP_011541144.1:p.Thr2611Ala
XM_011542843.2:c.7996A>G (ATM) XP_011541145.1:p.Thr2666Ala
XM_011542844.3:c.6952A>G (ATM) XP_011541146.1:p.Thr2318Ala
XM_011542845.2:c.6688A>G (ATM) XP_011541147.1:p.Thr2230Ala
XM_017017789.2:c.7996A>G (ATM) XP_016873278.1:p.Thr2666Ala
XM_017017790.2:c.7996A>G (ATM) XP_016873279.1:p.Thr2666Ala
NM_001330368.2:c.641-24883T>C (C11orf65) NP_001317297.1:n.641-24883T>C
NM_001351110.2:c.*38+1266T>C (C11orf65) NP_001338039.1:n.*38+1266T>C
NM_001351834.2:c.7996A>G (ATM) NP_001338763.1:p.Thr2666Ala
NM_000051.4:c.7996A>G (ATM) MANE Select NP_000042.3:p.Thr2666Ala
NR_147053.3:n.2372+1266T>C (C11orf65)