Canonical Allele Identifier: CA167261
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108310307del , CM000673.2:g.108310307del GRCh38
NC_000011.9:g.108181034del , CM000673.1:g.108181034del GRCh37
NC_000011.8:g.107686244del NCBI36
NG_009830.1:g.92476del , LRG_135:g.92476del
NG_054724.1:g.164527del

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.5910del (ATM) MANE Select NP_000042.3:p.Glu1971ArgfsTer19
ENST00000675843.1:c.5910del (ATM) MANE Select ENSP00000501606.1:p.Glu1971ArgfsTer19
NM_000051.3:c.5910del , LRG_135t1:c.5910del (ATM) NP_000042.3:p.Glu1971ArgfsTer19
NM_001330368.1:c.641-1235del (C11orf65) NP_001317297.1:n.641-1235del
NM_001330368.2:c.641-1235del (C11orf65) NP_001317297.1:n.641-1235del
NM_001351110.1:c.*39-1235del (C11orf65) NP_001338039.1:n.*39-1235del
NM_001351110.2:c.*39-1235del (C11orf65) NP_001338039.1:n.*39-1235del
NM_001351834.1:c.5910del (ATM) NP_001338763.1:p.Glu1971ArgfsTer19
NM_001351834.2:c.5910del (ATM) NP_001338763.1:p.Glu1971ArgfsTer19
ENST00000278616.8:c.5910del (ATM) ENSP00000278616.4:p.Glu1971ArgfsTer19
ENST00000278616.9:c.5910del (ATM) ENSP00000278616.4:p.Glu1971ArgfsTer19
ENST00000452508.6:c.5910del (ATM) ENSP00000388058.2:p.Glu1971ArgfsTer19
ENST00000452508.7:c.5910del (ATM) ENSP00000388058.2:p.Glu1971ArgfsTer19
ENST00000524792.5:n.2125del (ATM)
ENST00000525056.2:n.329del (ATM)
ENST00000525729.5:c.641-1235del (C11orf65) ENSP00000433395.1:n.641-1235del
ENST00000527805.6:c.*974del (ATM) ENSP00000435747.2:n.*974del
ENST00000529588.5:c.334del (ATM)
ENST00000532765.1:n.227del (ATM)
ENST00000533690.5:n.1314del (ATM)
ENST00000675595.1:c.*974del (ATM) ENSP00000502563.1:n.*974del
ENST00000682286.1:n.667del (ATM)
ENST00000682302.1:n.328del (ATM)
ENST00000683174.1:n.7394del (ATM)
ENST00000683524.1:n.1134del (ATM)
ENST00000684152.1:n.1624del (ATM)
ENST00000713593.1:c.*5381del (ATM) ENSP00000518889.1:n.*5381del
XM_005271561.3:c.5910del (ATM) XP_005271618.2:p.Glu1971ArgfsTer19
XM_005271562.3:c.5910del (ATM) XP_005271619.2:p.Glu1971ArgfsTer19
XM_005271562.5:c.5910del (ATM) XP_005271619.2:p.Glu1971ArgfsTer19
XM_006718843.2:c.5910del (ATM) XP_006718906.1:p.Glu1971ArgfsTer19
XM_006718843.4:c.5910del (ATM) XP_006718906.1:p.Glu1971ArgfsTer19
XM_006718845.1:c.1866del (ATM) XP_006718908.1:p.Glu623ArgfsTer19
XM_006718845.2:c.1866del (ATM) XP_006718908.1:p.Glu623ArgfsTer19
XM_011542840.1:c.5910del (ATM) XP_011541142.1:p.Glu1971ArgfsTer19
XM_011542840.3:c.5910del (ATM) XP_011541142.1:p.Glu1971ArgfsTer19
XM_011542841.1:c.5910del (ATM) XP_011541143.1:p.Glu1971ArgfsTer19
XM_011542842.1:c.5745del (ATM) XP_011541144.1:p.Glu1916ArgfsTer19
XM_011542842.3:c.5745del (ATM) XP_011541144.1:p.Glu1916ArgfsTer19
XM_011542843.1:c.5910del (ATM) XP_011541145.1:p.Glu1971ArgfsTer19
XM_011542843.2:c.5910del (ATM) XP_011541145.1:p.Glu1971ArgfsTer19
XM_011542844.1:c.4866del (ATM) XP_011541146.1:p.Glu1623ArgfsTer19
XM_011542844.3:c.4866del (ATM) XP_011541146.1:p.Glu1623ArgfsTer19
XM_011542845.1:c.4602del (ATM) XP_011541147.1:p.Glu1535ArgfsTer19
XM_011542845.2:c.4602del (ATM) XP_011541147.1:p.Glu1535ArgfsTer19
XM_011542847.1:c.981del (ATM) XP_011541149.1:p.Glu328ArgfsTer19
XM_017017789.2:c.5910del (ATM) XP_016873278.1:p.Glu1971ArgfsTer19
XM_017017790.2:c.5910del (ATM) XP_016873279.1:p.Glu1971ArgfsTer19
XM_017017791.1:c.5910del (ATM) XP_016873280.1:p.Glu1971ArgfsTer19
XR_002957150.1:n.6510del (ATM)