Canonical Allele Identifier: CA658683759
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331569_108331572del , CM000673.2:g.108331569_108331572del GRCh38
NC_000011.9:g.108202296_108202299del , CM000673.1:g.108202296_108202299del GRCh37
NC_000011.8:g.107707506_107707509del NCBI36
NG_009830.1:g.113738_113741del , LRG_135:g.113738_113741del
NG_054724.1:g.143261_143264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7629+12_7629+15del (ATM) ENSP00000388058.2:n.7629+12_7629+15del
ENST00000713593.1:c.*7100+12_*7100+15del (ATM) ENSP00000518889.1:n.*7100+12_*7100+15del
ENST00000278616.9:c.7629+12_7629+15del (ATM) ENSP00000278616.4:n.7629+12_7629+15del
ENST00000525056.2:n.2048+12_2048+15del (ATM)
ENST00000525537.3:n.586+12_586+15del (ATM)
ENST00000638786.2:n.466+12_466+15del (ATM)
ENST00000682286.1:n.2386+12_2386+15del (ATM)
ENST00000682302.1:n.2047+12_2047+15del (ATM)
ENST00000683174.1:n.9113+12_9113+15del (ATM)
ENST00000683524.1:n.2853+12_2853+15del (ATM)
ENST00000684152.1:n.3343+12_3343+15del (ATM)
ENST00000684447.1:n.2104_2107del (ATM)
ENST00000527805.6:c.*2693+12_*2693+15del (ATM) ENSP00000435747.2:n.*2693+12_*2693+15del
ENST00000675595.1:c.*2764+12_*2764+15del (ATM) ENSP00000502563.1:n.*2764+12_*2764+15del
ENST00000675843.1:c.7629+12_7629+15del (ATM) MANE Select ENSP00000501606.1:n.7629+12_7629+15del
ENST00000278616.8:c.7629+12_7629+15del (ATM) ENSP00000278616.4:n.7629+12_7629+15del
ENST00000452508.6:c.7629+12_7629+15del (ATM) ENSP00000388058.2:n.7629+12_7629+15del
ENST00000524755.5:c.300-5_300-2del (C11orf65)
ENST00000524792.5:n.3844+12_3844+15del (ATM)
ENST00000525729.5:c.641-22501_641-22498del (C11orf65) ENSP00000433395.1:n.641-22501_641-22498del
ENST00000527531.5:c.*1270-5_*1270-2del (C11orf65) ENSP00000431706.1:n.*1270-5_*1270-2del
ENST00000533690.5:n.3033+12_3033+15del (ATM)
ENST00000615746.4:c.*1270-5_*1270-2del (C11orf65) ENSP00000483537.1:n.*1270-5_*1270-2del
NM_000051.3:c.7629+12_7629+15del , LRG_135t1:c.7629+12_7629+15del (ATM) NP_000042.3:n.7629+12_7629+15del
XM_005271414.3:c.*39-5_*39-2del (C11orf65) XP_005271471.1:n.*39-5_*39-2del
XM_005271415.3:c.805-5_805-2del (C11orf65) XP_005271472.1:n.805-5_805-2del
XM_005271561.3:c.7629+12_7629+15del (ATM) XP_005271618.2:n.7629+12_7629+15del
XM_005271562.3:c.7629+12_7629+15del (ATM) XP_005271619.2:n.7629+12_7629+15del
XM_006718843.2:c.7629+12_7629+15del (ATM) XP_006718906.1:n.7629+12_7629+15del
XM_006718845.1:c.3585+12_3585+15del (ATM) XP_006718908.1:n.3585+12_3585+15del
XM_011542840.1:c.7629+12_7629+15del (ATM) XP_011541142.1:n.7629+12_7629+15del
XM_011542841.1:c.7629+12_7629+15del (ATM) XP_011541143.1:n.7629+12_7629+15del
XM_011542842.1:c.7464+12_7464+15del (ATM) XP_011541144.1:n.7464+12_7464+15del
XM_011542843.1:c.7629+12_7629+15del (ATM) XP_011541145.1:n.7629+12_7629+15del
XM_011542844.1:c.6585+12_6585+15del (ATM) XP_011541146.1:n.6585+12_6585+15del
XM_011542845.1:c.6321+12_6321+15del (ATM) XP_011541147.1:n.6321+12_6321+15del
XM_011542847.1:c.2700+12_2700+15del (ATM) XP_011541149.1:n.2700+12_2700+15del
NM_001330368.1:c.641-22501_641-22498del (C11orf65) NP_001317297.1:n.641-22501_641-22498del
NM_001351110.1:c.*38+3648_*38+3651del (C11orf65) NP_001338039.1:n.*38+3648_*38+3651del
NM_001351834.1:c.7629+12_7629+15del (ATM) NP_001338763.1:n.7629+12_7629+15del
NR_147053.2:n.2375-5_2375-2del (C11orf65)
XM_005271414.4:c.*39-5_*39-2del (C11orf65) XP_005271471.1:n.*39-5_*39-2del
XM_005271415.4:c.805-5_805-2del (C11orf65) XP_005271472.1:n.805-5_805-2del
XM_005271562.5:c.7629+12_7629+15del (ATM) XP_005271619.2:n.7629+12_7629+15del
XM_006718843.4:c.7629+12_7629+15del (ATM) XP_006718906.1:n.7629+12_7629+15del
XM_006718845.2:c.3585+12_3585+15del (ATM) XP_006718908.1:n.3585+12_3585+15del
XM_011542840.3:c.7629+12_7629+15del (ATM) XP_011541142.1:n.7629+12_7629+15del
XM_011542842.3:c.7464+12_7464+15del (ATM) XP_011541144.1:n.7464+12_7464+15del
XM_011542843.2:c.7629+12_7629+15del (ATM) XP_011541145.1:n.7629+12_7629+15del
XM_011542844.3:c.6585+12_6585+15del (ATM) XP_011541146.1:n.6585+12_6585+15del
XM_011542845.2:c.6321+12_6321+15del (ATM) XP_011541147.1:n.6321+12_6321+15del
XM_017017789.2:c.7629+12_7629+15del (ATM) XP_016873278.1:n.7629+12_7629+15del
XM_017017790.2:c.7629+12_7629+15del (ATM) XP_016873279.1:n.7629+12_7629+15del
NM_001330368.2:c.641-22501_641-22498del (C11orf65) NP_001317297.1:n.641-22501_641-22498del
NM_001351110.2:c.*38+3648_*38+3651del (C11orf65) NP_001338039.1:n.*38+3648_*38+3651del
NM_001351834.2:c.7629+12_7629+15del (ATM) NP_001338763.1:n.7629+12_7629+15del
NM_000051.4:c.7629+12_7629+15del (ATM) MANE Select NP_000042.3:n.7629+12_7629+15del
NR_147053.3:n.2373-5_2373-2del (C11orf65)
Search 100 bp 5'
Search 100 bp 3'