Canonical Allele Identifier: CA1998809682
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331487T= , CM000673.2:g.108331487T= GRCh38
NC_000011.9:g.108202214T= , CM000673.1:g.108202214T= GRCh37
NC_000011.8:g.107707424T= NCBI36
NG_009830.1:g.113656T= , LRG_135:g.113656T=
NG_054724.1:g.143346A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7559T= (ATM) ENSP00000388058.2:p.Met2520=
ENST00000713593.1:c.*7030T= (ATM) ENSP00000518889.1:n.*7030T=
ENST00000278616.9:c.7559T= (ATM) ENSP00000278616.4:p.Met2520=
ENST00000525056.2:n.1978T= (ATM)
ENST00000525537.3:n.516T= (ATM)
ENST00000638786.2:n.396T= (ATM)
ENST00000682286.1:n.2316T= (ATM)
ENST00000682302.1:n.1977T= (ATM)
ENST00000683174.1:n.9043T= (ATM)
ENST00000683524.1:n.2783T= (ATM)
ENST00000684152.1:n.3273T= (ATM)
ENST00000684447.1:n.2022T= (ATM)
ENST00000527805.6:c.*2623T= (ATM) ENSP00000435747.2:n.*2623T=
ENST00000675595.1:c.*2694T= (ATM) ENSP00000502563.1:n.*2694T=
ENST00000675843.1:c.7559T= (ATM) MANE Select ENSP00000501606.1:p.Met2520=
ENST00000278616.8:c.7559T= (ATM) ENSP00000278616.4:p.Met2520=
ENST00000452508.6:c.7559T= (ATM) ENSP00000388058.2:p.Met2520=
ENST00000524755.5:c.380A= (C11orf65)
ENST00000524792.5:n.3774T= (ATM)
ENST00000525729.5:c.641-22416A= (C11orf65) ENSP00000433395.1:n.641-22416A=
ENST00000527531.5:c.*1350A= (C11orf65) ENSP00000431706.1:n.*1350A=
ENST00000533690.5:n.2963T= (ATM)
ENST00000615746.4:c.*1350A= (C11orf65) ENSP00000483537.1:n.*1350A=
NM_000051.3:c.7559T= , LRG_135t1:c.7559T= (ATM) NP_000042.3:p.Met2520=
XM_005271414.3:c.*119A= (C11orf65) XP_005271471.1:n.*119A=
XM_005271415.3:c.*63A= (C11orf65) XP_005271472.1:n.*63A=
XM_005271561.3:c.7559T= (ATM) XP_005271618.2:p.Met2520=
XM_005271562.3:c.7559T= (ATM) XP_005271619.2:p.Met2520=
XM_006718843.2:c.7559T= (ATM) XP_006718906.1:p.Met2520=
XM_006718845.1:c.3515T= (ATM) XP_006718908.1:p.Met1172=
XM_011542840.1:c.7559T= (ATM) XP_011541142.1:p.Met2520=
XM_011542841.1:c.7559T= (ATM) XP_011541143.1:p.Met2520=
XM_011542842.1:c.7394T= (ATM) XP_011541144.1:p.Met2465=
XM_011542843.1:c.7559T= (ATM) XP_011541145.1:p.Met2520=
XM_011542844.1:c.6515T= (ATM) XP_011541146.1:p.Met2172=
XM_011542845.1:c.6251T= (ATM) XP_011541147.1:p.Met2084=
XM_011542847.1:c.2630T= (ATM) XP_011541149.1:p.Met877=
NM_001330368.1:c.641-22416A= (C11orf65) NP_001317297.1:n.641-22416A=
NM_001351110.1:c.*38+3733A= (C11orf65) NP_001338039.1:n.*38+3733A=
NM_001351834.1:c.7559T= (ATM) NP_001338763.1:p.Met2520=
NR_147053.2:n.2455A= (C11orf65)
XM_005271414.4:c.*119A= (C11orf65) XP_005271471.1:n.*119A=
XM_005271415.4:c.*63A= (C11orf65) XP_005271472.1:n.*63A=
XM_005271562.5:c.7559T= (ATM) XP_005271619.2:p.Met2520=
XM_006718843.4:c.7559T= (ATM) XP_006718906.1:p.Met2520=
XM_006718845.2:c.3515T= (ATM) XP_006718908.1:p.Met1172=
XM_011542840.3:c.7559T= (ATM) XP_011541142.1:p.Met2520=
XM_011542842.3:c.7394T= (ATM) XP_011541144.1:p.Met2465=
XM_011542843.2:c.7559T= (ATM) XP_011541145.1:p.Met2520=
XM_011542844.3:c.6515T= (ATM) XP_011541146.1:p.Met2172=
XM_011542845.2:c.6251T= (ATM) XP_011541147.1:p.Met2084=
XM_017017789.2:c.7559T= (ATM) XP_016873278.1:p.Met2520=
XM_017017790.2:c.7559T= (ATM) XP_016873279.1:p.Met2520=
NM_001330368.2:c.641-22416A= (C11orf65) NP_001317297.1:n.641-22416A=
NM_001351110.2:c.*38+3733A= (C11orf65) NP_001338039.1:n.*38+3733A=
NM_001351834.2:c.7559T= (ATM) NP_001338763.1:p.Met2520=
NM_000051.4:c.7559T= (ATM) MANE Select NP_000042.3:p.Met2520=
NR_147053.3:n.2453A= (C11orf65)