Canonical Allele Identifier: CA2793550181
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108321492_108321493insCCAAACACACCCAACAC , CM000673.2:g.108321492_108321493insCCAAACACACCCAACAC GRCh38
NC_000011.9:g.108192219_108192220insCCAAACACACCCAACAC , CM000673.1:g.108192219_108192220insCCAAACACACCCAACAC GRCh37
NC_000011.8:g.107697429_107697430insCCAAACACACCCAACAC NCBI36
NG_009830.1:g.103661_103662insCCAAACACACCCAACAC , LRG_135:g.103661_103662insCCAAACACACCCAACAC
NG_054724.1:g.153340_153341insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) ENSP00000388058.2:n.6572+72_6572+73insCCAAACACACCCAACAC
ENST00000713593.1:c.*6043+72_*6043+73insCCAAACACACCCAACAC (ATM) ENSP00000518889.1:n.*6043+72_*6043+73insCCAAACACACCCAACAC
ENST00000278616.9:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) ENSP00000278616.4:n.6572+72_6572+73insCCAAACACACCCAACAC
ENST00000525056.2:n.991+72_991+73insCCAAACACACCCAACAC (ATM)
ENST00000682286.1:n.1329+72_1329+73insCCAAACACACCCAACAC (ATM)
ENST00000682302.1:n.990+72_990+73insCCAAACACACCCAACAC (ATM)
ENST00000683174.1:n.8056+72_8056+73insCCAAACACACCCAACAC (ATM)
ENST00000683524.1:n.1796+72_1796+73insCCAAACACACCCAACAC (ATM)
ENST00000684152.1:n.2286+72_2286+73insCCAAACACACCCAACAC (ATM)
ENST00000527805.6:c.*1636+72_*1636+73insCCAAACACACCCAACAC (ATM) ENSP00000435747.2:n.*1636+72_*1636+73insCCAAACACACCCAACAC
ENST00000675595.1:c.*1707+72_*1707+73insCCAAACACACCCAACAC (ATM) ENSP00000502563.1:n.*1707+72_*1707+73insCCAAACACACCCAACAC
ENST00000675843.1:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) MANE Select ENSP00000501606.1:n.6572+72_6572+73insCCAAACACACCCAACAC
ENST00000278616.8:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) ENSP00000278616.4:n.6572+72_6572+73insCCAAACACACCCAACAC
ENST00000452508.6:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) ENSP00000388058.2:n.6572+72_6572+73insCCAAACACACCCAACAC
ENST00000524792.5:n.2787+72_2787+73insCCAAACACACCCAACAC (ATM)
ENST00000525729.5:c.641-12422_641-12421insGTGTTGGGTGTGTTTGG (C11orf65) ENSP00000433395.1:n.641-12422_641-12421insGTGTTGGGTGTGTTTGG
ENST00000533690.5:n.1976+72_1976+73insCCAAACACACCCAACAC (ATM)
NM_000051.3:c.6572+72_6572+73insCCAAACACACCCAACAC , LRG_135t1:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) NP_000042.3:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_005271561.3:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_005271618.2:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_005271562.3:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_005271619.2:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_006718843.2:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_006718906.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_006718845.1:c.2528+72_2528+73insCCAAACACACCCAACAC (ATM) XP_006718908.1:n.2528+72_2528+73insCCAAACACACCCAACAC
XM_011542840.1:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_011541142.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_011542841.1:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_011541143.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_011542842.1:c.6407+72_6407+73insCCAAACACACCCAACAC (ATM) XP_011541144.1:n.6407+72_6407+73insCCAAACACACCCAACAC
XM_011542843.1:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_011541145.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_011542844.1:c.5528+72_5528+73insCCAAACACACCCAACAC (ATM) XP_011541146.1:n.5528+72_5528+73insCCAAACACACCCAACAC
XM_011542845.1:c.5264+72_5264+73insCCAAACACACCCAACAC (ATM) XP_011541147.1:n.5264+72_5264+73insCCAAACACACCCAACAC
XM_011542847.1:c.1643+72_1643+73insCCAAACACACCCAACAC (ATM) XP_011541149.1:n.1643+72_1643+73insCCAAACACACCCAACAC
NM_001330368.1:c.641-12422_641-12421insGTGTTGGGTGTGTTTGG (C11orf65) NP_001317297.1:n.641-12422_641-12421insGTGTTGGGTGTGTTTGG
NM_001351110.1:c.*39-12422_*39-12421insGTGTTGGGTGTGTTTGG (C11orf65) NP_001338039.1:n.*39-12422_*39-12421insGTGTTGGGTGTGTTTGG
NM_001351834.1:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) NP_001338763.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_005271562.5:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_005271619.2:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_006718843.4:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_006718906.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_006718845.2:c.2528+72_2528+73insCCAAACACACCCAACAC (ATM) XP_006718908.1:n.2528+72_2528+73insCCAAACACACCCAACAC
XM_011542840.3:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_011541142.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_011542842.3:c.6407+72_6407+73insCCAAACACACCCAACAC (ATM) XP_011541144.1:n.6407+72_6407+73insCCAAACACACCCAACAC
XM_011542843.2:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_011541145.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_011542844.3:c.5528+72_5528+73insCCAAACACACCCAACAC (ATM) XP_011541146.1:n.5528+72_5528+73insCCAAACACACCCAACAC
XM_011542845.2:c.5264+72_5264+73insCCAAACACACCCAACAC (ATM) XP_011541147.1:n.5264+72_5264+73insCCAAACACACCCAACAC
XM_017017789.2:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_016873278.1:n.6572+72_6572+73insCCAAACACACCCAACAC
XM_017017790.2:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) XP_016873279.1:n.6572+72_6572+73insCCAAACACACCCAACAC
NM_001330368.2:c.641-12422_641-12421insGTGTTGGGTGTGTTTGG (C11orf65) NP_001317297.1:n.641-12422_641-12421insGTGTTGGGTGTGTTTGG
NM_001351110.2:c.*39-12422_*39-12421insGTGTTGGGTGTGTTTGG (C11orf65) NP_001338039.1:n.*39-12422_*39-12421insGTGTTGGGTGTGTTTGG
NM_001351834.2:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) NP_001338763.1:n.6572+72_6572+73insCCAAACACACCCAACAC
NM_000051.4:c.6572+72_6572+73insCCAAACACACCCAACAC (ATM) MANE Select NP_000042.3:n.6572+72_6572+73insCCAAACACACCCAACAC