Canonical Allele Identifier: CA1998809720
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108327756A= , CM000673.2:g.108327756A= GRCh38
NC_000011.9:g.108198483A= , CM000673.1:g.108198483A= GRCh37
NC_000011.8:g.107703693A= NCBI36
NG_009830.1:g.109925A= , LRG_135:g.109925A=
NG_054724.1:g.147077T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7087A= (ATM) ENSP00000388058.2:p.Lys2363=
ENST00000713593.1:c.*6558A= (ATM) ENSP00000518889.1:n.*6558A=
ENST00000278616.9:c.7087A= (ATM) ENSP00000278616.4:p.Lys2363=
ENST00000525056.2:n.1506A= (ATM)
ENST00000525537.3:n.44A= (ATM)
ENST00000682286.1:n.1844A= (ATM)
ENST00000682302.1:n.1505A= (ATM)
ENST00000683174.1:n.8571A= (ATM)
ENST00000683524.1:n.2311A= (ATM)
ENST00000684152.1:n.2801A= (ATM)
ENST00000684447.1:n.1550A= (ATM)
ENST00000527805.6:c.*2151A= (ATM) ENSP00000435747.2:n.*2151A=
ENST00000675595.1:c.*2222A= (ATM) ENSP00000502563.1:n.*2222A=
ENST00000675843.1:c.7087A= (ATM) MANE Select ENSP00000501606.1:p.Lys2363=
ENST00000278616.8:c.7087A= (ATM) ENSP00000278616.4:p.Lys2363=
ENST00000452508.6:c.7087A= (ATM) ENSP00000388058.2:p.Lys2363=
ENST00000524792.5:n.3302A= (ATM)
ENST00000525537.2:n.363A= (ATM)
ENST00000525729.5:c.641-18685T= (C11orf65) ENSP00000433395.1:n.641-18685T=
ENST00000527389.2:n.112A= (ATM)
ENST00000533690.5:n.2491A= (ATM)
NM_000051.3:c.7087A= , LRG_135t1:c.7087A= (ATM) NP_000042.3:p.Lys2363=
XM_005271561.3:c.7087A= (ATM) XP_005271618.2:p.Lys2363=
XM_005271562.3:c.7087A= (ATM) XP_005271619.2:p.Lys2363=
XM_006718843.2:c.7087A= (ATM) XP_006718906.1:p.Lys2363=
XM_006718845.1:c.3043A= (ATM) XP_006718908.1:p.Lys1015=
XM_011542840.1:c.7087A= (ATM) XP_011541142.1:p.Lys2363=
XM_011542841.1:c.7087A= (ATM) XP_011541143.1:p.Lys2363=
XM_011542842.1:c.6922A= (ATM) XP_011541144.1:p.Lys2308=
XM_011542843.1:c.7087A= (ATM) XP_011541145.1:p.Lys2363=
XM_011542844.1:c.6043A= (ATM) XP_011541146.1:p.Lys2015=
XM_011542845.1:c.5779A= (ATM) XP_011541147.1:p.Lys1927=
XM_011542847.1:c.2158A= (ATM) XP_011541149.1:p.Lys720=
NM_001330368.1:c.641-18685T= (C11orf65) NP_001317297.1:n.641-18685T=
NM_001351110.1:c.*38+7464T= (C11orf65) NP_001338039.1:n.*38+7464T=
NM_001351834.1:c.7087A= (ATM) NP_001338763.1:p.Lys2363=
XM_005271562.5:c.7087A= (ATM) XP_005271619.2:p.Lys2363=
XM_006718843.4:c.7087A= (ATM) XP_006718906.1:p.Lys2363=
XM_006718845.2:c.3043A= (ATM) XP_006718908.1:p.Lys1015=
XM_011542840.3:c.7087A= (ATM) XP_011541142.1:p.Lys2363=
XM_011542842.3:c.6922A= (ATM) XP_011541144.1:p.Lys2308=
XM_011542843.2:c.7087A= (ATM) XP_011541145.1:p.Lys2363=
XM_011542844.3:c.6043A= (ATM) XP_011541146.1:p.Lys2015=
XM_011542845.2:c.5779A= (ATM) XP_011541147.1:p.Lys1927=
XM_017017789.2:c.7087A= (ATM) XP_016873278.1:p.Lys2363=
XM_017017790.2:c.7087A= (ATM) XP_016873279.1:p.Lys2363=
NM_001330368.2:c.641-18685T= (C11orf65) NP_001317297.1:n.641-18685T=
NM_001351110.2:c.*38+7464T= (C11orf65) NP_001338039.1:n.*38+7464T=
NM_001351834.2:c.7087A= (ATM) NP_001338763.1:p.Lys2363=
NM_000051.4:c.7087A= (ATM) MANE Select NP_000042.3:p.Lys2363=