Canonical Allele Identifier: CA382525614
Community Standard Title: NM_000051.4(ATM):c.8797A>T (p.Lys2933Ter)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354821A>T , CM000673.2:g.108354821A>T GRCh38
NC_000011.9:g.108225548A>T , CM000673.1:g.108225548A>T GRCh37
NC_000011.8:g.107730758A>T NCBI36
NG_009830.1:g.136990A>T , LRG_135:g.136990A>T
NG_054724.1:g.120012T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8797A>T (ATM) MANE Select NP_000042.3:p.Lys2933Ter
ENST00000675843.1:c.8797A>T (ATM) MANE Select ENSP00000501606.1:p.Lys2933Ter
NM_000051.3:c.8797A>T , LRG_135t1:c.8797A>T (ATM) NP_000042.3:p.Lys2933Ter
NM_001330368.1:c.640+31099T>A (C11orf65) NP_001317297.1:n.640+31099T>A
NM_001330368.2:c.640+31099T>A (C11orf65) NP_001317297.1:n.640+31099T>A
NM_001351110.1:c.695-19529T>A (C11orf65) NP_001338039.1:n.695-19529T>A
NM_001351110.2:c.695-19529T>A (C11orf65) NP_001338039.1:n.695-19529T>A
NM_001351834.1:c.8797A>T (ATM) NP_001338763.1:p.Lys2933Ter
NM_001351834.2:c.8797A>T (ATM) NP_001338763.1:p.Lys2933Ter
NR_147053.2:n.2301+94T>A (C11orf65)
NR_147053.3:n.2299+94T>A (C11orf65)
ENST00000278616.8:c.8797A>T (ATM) ENSP00000278616.4:p.Lys2933Ter
ENST00000278616.9:c.8797A>T (ATM) ENSP00000278616.4:p.Lys2933Ter
ENST00000452508.6:c.8797A>T (ATM) ENSP00000388058.2:p.Lys2933Ter
ENST00000452508.7:c.8797A>T (ATM) ENSP00000388058.2:p.Lys2933Ter
ENST00000524755.5:c.227-19529T>A (C11orf65)
ENST00000524792.5:n.5012A>T (ATM)
ENST00000525178.5:n.285A>T (ATM)
ENST00000525729.5:c.640+31099T>A (C11orf65) ENSP00000433395.1:n.640+31099T>A
ENST00000526725.1:n.272-14457T>A (C11orf65)
ENST00000527181.1:n.136A>T (ATM)
ENST00000527531.5:c.*1196+94T>A (C11orf65) ENSP00000431706.1:n.*1196+94T>A
ENST00000527805.6:c.*3861A>T (ATM) ENSP00000435747.2:n.*3861A>T
ENST00000615746.4:c.*1196+94T>A (C11orf65) ENSP00000483537.1:n.*1196+94T>A
ENST00000638786.2:n.1495A>T (ATM)
ENST00000675595.1:c.*3932A>T (ATM) ENSP00000502563.1:n.*3932A>T
ENST00000682286.1:n.3554A>T (ATM)
ENST00000682302.1:n.3215A>T (ATM)
ENST00000683174.1:n.10281A>T (ATM)
ENST00000683524.1:n.4021A>T (ATM)
ENST00000684152.1:n.4213A>T (ATM)
ENST00000684180.1:n.1271A>T (ATM)
ENST00000684447.1:n.5290A>T (ATM)
ENST00000713593.1:c.*8268A>T (ATM) ENSP00000518889.1:n.*8268A>T
XM_005271414.3:c.788-19529T>A (C11orf65) XP_005271471.1:n.788-19529T>A
XM_005271414.4:c.788-19529T>A (C11orf65) XP_005271471.1:n.788-19529T>A
XM_005271415.3:c.732-19529T>A (C11orf65) XP_005271472.1:n.732-19529T>A
XM_005271415.4:c.732-19529T>A (C11orf65) XP_005271472.1:n.732-19529T>A
XM_005271561.3:c.8797A>T (ATM) XP_005271618.2:p.Lys2933Ter
XM_005271562.3:c.8797A>T (ATM) XP_005271619.2:p.Lys2933Ter
XM_005271562.5:c.8797A>T (ATM) XP_005271619.2:p.Lys2933Ter
XM_006718843.2:c.8797A>T (ATM) XP_006718906.1:p.Lys2933Ter
XM_006718843.4:c.8797A>T (ATM) XP_006718906.1:p.Lys2933Ter
XM_006718845.1:c.4753A>T (ATM) XP_006718908.1:p.Lys1585Ter
XM_006718845.2:c.4753A>T (ATM) XP_006718908.1:p.Lys1585Ter
XM_011542640.1:c.788-14457T>A (C11orf65) XP_011540942.1:n.788-14457T>A
XM_011542640.2:c.788-14457T>A (C11orf65) XP_011540942.1:n.788-14457T>A
XM_011542642.1:c.732-5748T>A (C11orf65) XP_011540944.1:n.732-5748T>A
XM_011542643.1:c.732-14457T>A (C11orf65) XP_011540945.1:n.732-14457T>A
XM_011542643.2:c.732-14457T>A (C11orf65) XP_011540945.1:n.732-14457T>A
XM_011542840.1:c.8797A>T (ATM) XP_011541142.1:p.Lys2933Ter
XM_011542840.3:c.8797A>T (ATM) XP_011541142.1:p.Lys2933Ter
XM_011542841.1:c.8797A>T (ATM) XP_011541143.1:p.Lys2933Ter
XM_011542842.1:c.8632A>T (ATM) XP_011541144.1:p.Lys2878Ter
XM_011542842.3:c.8632A>T (ATM) XP_011541144.1:p.Lys2878Ter
XM_011542844.1:c.7753A>T (ATM) XP_011541146.1:p.Lys2585Ter
XM_011542844.3:c.7753A>T (ATM) XP_011541146.1:p.Lys2585Ter
XM_011542845.1:c.7489A>T (ATM) XP_011541147.1:p.Lys2497Ter
XM_011542845.2:c.7489A>T (ATM) XP_011541147.1:p.Lys2497Ter
XM_011542847.1:c.3868A>T (ATM) XP_011541149.1:p.Lys1290Ter
XM_017017247.1:c.904-14457T>A (C11orf65) XP_016872736.1:n.904-14457T>A
XM_017017789.2:c.8797A>T (ATM) XP_016873278.1:p.Lys2933Ter
XM_017017790.2:c.8797A>T (ATM) XP_016873279.1:p.Lys2933Ter