Canonical Allele Identifier: CA382559759
Community Standard Title: NM_000051.4(ATM):c.7267G>T (p.Glu2423Ter)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108329198G>T , CM000673.2:g.108329198G>T GRCh38
NC_000011.9:g.108199925G>T , CM000673.1:g.108199925G>T GRCh37
NC_000011.8:g.107705135G>T NCBI36
NG_009830.1:g.111367G>T , LRG_135:g.111367G>T
NG_054724.1:g.145635C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.7267G>T (ATM) MANE Select NP_000042.3:p.Glu2423Ter
ENST00000675843.1:c.7267G>T (ATM) MANE Select ENSP00000501606.1:p.Glu2423Ter
NM_000051.3:c.7267G>T , LRG_135t1:c.7267G>T (ATM) NP_000042.3:p.Glu2423Ter
NM_001330368.1:c.641-20127C>A (C11orf65) NP_001317297.1:n.641-20127C>A
NM_001330368.2:c.641-20127C>A (C11orf65) NP_001317297.1:n.641-20127C>A
NM_001351110.1:c.*38+6022C>A (C11orf65) NP_001338039.1:n.*38+6022C>A
NM_001351110.2:c.*38+6022C>A (C11orf65) NP_001338039.1:n.*38+6022C>A
NM_001351834.1:c.7267G>T (ATM) NP_001338763.1:p.Glu2423Ter
NM_001351834.2:c.7267G>T (ATM) NP_001338763.1:p.Glu2423Ter
ENST00000278616.8:c.7267G>T (ATM) ENSP00000278616.4:p.Glu2423Ter
ENST00000278616.9:c.7267G>T (ATM) ENSP00000278616.4:p.Glu2423Ter
ENST00000452508.6:c.7267G>T (ATM) ENSP00000388058.2:p.Glu2423Ter
ENST00000452508.7:c.7267G>T (ATM) ENSP00000388058.2:p.Glu2423Ter
ENST00000524792.5:n.3482G>T (ATM)
ENST00000525056.2:n.1686G>T (ATM)
ENST00000525537.2:n.543G>T (ATM)
ENST00000525537.3:n.224G>T (ATM)
ENST00000525729.5:c.641-20127C>A (C11orf65) ENSP00000433395.1:n.641-20127C>A
ENST00000527389.2:n.292G>T (ATM)
ENST00000527805.6:c.*2331G>T (ATM) ENSP00000435747.2:n.*2331G>T
ENST00000533690.5:n.2671G>T (ATM)
ENST00000638786.2:n.104G>T (ATM)
ENST00000675595.1:c.*2402G>T (ATM) ENSP00000502563.1:n.*2402G>T
ENST00000682286.1:n.2024G>T (ATM)
ENST00000682302.1:n.1685G>T (ATM)
ENST00000683174.1:n.8751G>T (ATM)
ENST00000683524.1:n.2491G>T (ATM)
ENST00000684152.1:n.2981G>T (ATM)
ENST00000684447.1:n.1730G>T (ATM)
ENST00000713593.1:c.*6738G>T (ATM) ENSP00000518889.1:n.*6738G>T
XM_005271561.3:c.7267G>T (ATM) XP_005271618.2:p.Glu2423Ter
XM_005271562.3:c.7267G>T (ATM) XP_005271619.2:p.Glu2423Ter
XM_005271562.5:c.7267G>T (ATM) XP_005271619.2:p.Glu2423Ter
XM_006718843.2:c.7267G>T (ATM) XP_006718906.1:p.Glu2423Ter
XM_006718843.4:c.7267G>T (ATM) XP_006718906.1:p.Glu2423Ter
XM_006718845.1:c.3223G>T (ATM) XP_006718908.1:p.Glu1075Ter
XM_006718845.2:c.3223G>T (ATM) XP_006718908.1:p.Glu1075Ter
XM_011542840.1:c.7267G>T (ATM) XP_011541142.1:p.Glu2423Ter
XM_011542840.3:c.7267G>T (ATM) XP_011541142.1:p.Glu2423Ter
XM_011542841.1:c.7267G>T (ATM) XP_011541143.1:p.Glu2423Ter
XM_011542842.1:c.7102G>T (ATM) XP_011541144.1:p.Glu2368Ter
XM_011542842.3:c.7102G>T (ATM) XP_011541144.1:p.Glu2368Ter
XM_011542843.1:c.7267G>T (ATM) XP_011541145.1:p.Glu2423Ter
XM_011542843.2:c.7267G>T (ATM) XP_011541145.1:p.Glu2423Ter
XM_011542844.1:c.6223G>T (ATM) XP_011541146.1:p.Glu2075Ter
XM_011542844.3:c.6223G>T (ATM) XP_011541146.1:p.Glu2075Ter
XM_011542845.1:c.5959G>T (ATM) XP_011541147.1:p.Glu1987Ter
XM_011542845.2:c.5959G>T (ATM) XP_011541147.1:p.Glu1987Ter
XM_011542847.1:c.2338G>T (ATM) XP_011541149.1:p.Glu780Ter
XM_017017789.2:c.7267G>T (ATM) XP_016873278.1:p.Glu2423Ter
XM_017017790.2:c.7267G>T (ATM) XP_016873279.1:p.Glu2423Ter