Canonical Allele Identifier: CA1998807853
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108325498A= , CM000673.2:g.108325498A= GRCh38
NC_000011.9:g.108196225A= , CM000673.1:g.108196225A= GRCh37
NC_000011.8:g.107701435A= NCBI36
NG_009830.1:g.107667A= , LRG_135:g.107667A=
NG_054724.1:g.149335T=

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.6761A= (ATM) ENSP00000388058.2:p.His2254=
ENST00000713593.1:c.*6232A= (ATM) ENSP00000518889.1:n.*6232A=
ENST00000278616.9:c.6761A= (ATM) ENSP00000278616.4:p.His2254=
ENST00000525056.2:n.1180A= (ATM)
ENST00000682286.1:n.1518A= (ATM)
ENST00000682302.1:n.1179A= (ATM)
ENST00000683174.1:n.8245A= (ATM)
ENST00000683524.1:n.1985A= (ATM)
ENST00000684152.1:n.2475A= (ATM)
ENST00000527805.6:c.*1825A= (ATM) ENSP00000435747.2:n.*1825A=
ENST00000675595.1:c.*1896A= (ATM) ENSP00000502563.1:n.*1896A=
ENST00000675843.1:c.6761A= (ATM) MANE Select ENSP00000501606.1:p.His2254=
ENST00000278616.8:c.6761A= (ATM) ENSP00000278616.4:p.His2254=
ENST00000452508.6:c.6761A= (ATM) ENSP00000388058.2:p.His2254=
ENST00000524792.5:n.2976A= (ATM)
ENST00000525729.5:c.641-16427T= (C11orf65) ENSP00000433395.1:n.641-16427T=
ENST00000533690.5:n.2165A= (ATM)
NM_000051.3:c.6761A= , LRG_135t1:c.6761A= (ATM) NP_000042.3:p.His2254=
XM_005271561.3:c.6761A= (ATM) XP_005271618.2:p.His2254=
XM_005271562.3:c.6761A= (ATM) XP_005271619.2:p.His2254=
XM_006718843.2:c.6761A= (ATM) XP_006718906.1:p.His2254=
XM_006718845.1:c.2717A= (ATM) XP_006718908.1:p.His906=
XM_011542840.1:c.6761A= (ATM) XP_011541142.1:p.His2254=
XM_011542841.1:c.6761A= (ATM) XP_011541143.1:p.His2254=
XM_011542842.1:c.6596A= (ATM) XP_011541144.1:p.His2199=
XM_011542843.1:c.6761A= (ATM) XP_011541145.1:p.His2254=
XM_011542844.1:c.5717A= (ATM) XP_011541146.1:p.His1906=
XM_011542845.1:c.5453A= (ATM) XP_011541147.1:p.His1818=
XM_011542847.1:c.1832A= (ATM) XP_011541149.1:p.His611=
NM_001330368.1:c.641-16427T= (C11orf65) NP_001317297.1:n.641-16427T=
NM_001351110.1:c.*38+9722T= (C11orf65) NP_001338039.1:n.*38+9722T=
NM_001351834.1:c.6761A= (ATM) NP_001338763.1:p.His2254=
XM_005271562.5:c.6761A= (ATM) XP_005271619.2:p.His2254=
XM_006718843.4:c.6761A= (ATM) XP_006718906.1:p.His2254=
XM_006718845.2:c.2717A= (ATM) XP_006718908.1:p.His906=
XM_011542840.3:c.6761A= (ATM) XP_011541142.1:p.His2254=
XM_011542842.3:c.6596A= (ATM) XP_011541144.1:p.His2199=
XM_011542843.2:c.6761A= (ATM) XP_011541145.1:p.His2254=
XM_011542844.3:c.5717A= (ATM) XP_011541146.1:p.His1906=
XM_011542845.2:c.5453A= (ATM) XP_011541147.1:p.His1818=
XM_017017789.2:c.6761A= (ATM) XP_016873278.1:p.His2254=
XM_017017790.2:c.6761A= (ATM) XP_016873279.1:p.His2254=
NM_001330368.2:c.641-16427T= (C11orf65) NP_001317297.1:n.641-16427T=
NM_001351110.2:c.*38+9722T= (C11orf65) NP_001338039.1:n.*38+9722T=
NM_001351834.2:c.6761A= (ATM) NP_001338763.1:p.His2254=
NM_000051.4:c.6761A= (ATM) MANE Select NP_000042.3:p.His2254=