Canonical Allele Identifier: CA2793550179
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108321489_108321490insAC , CM000673.2:g.108321489_108321490insAC GRCh38
NC_000011.9:g.108192216_108192217insAC , CM000673.1:g.108192216_108192217insAC GRCh37
NC_000011.8:g.107697426_107697427insAC NCBI36
NG_009830.1:g.103658_103659insAC , LRG_135:g.103658_103659insAC
NG_054724.1:g.153343_153344insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6572+69_6572+70insAC (ATM) ENSP00000388058.2:n.6572+69_6572+70insAC
ENST00000713593.1:c.*6043+69_*6043+70insAC (ATM) ENSP00000518889.1:n.*6043+69_*6043+70insAC
ENST00000278616.9:c.6572+69_6572+70insAC (ATM) ENSP00000278616.4:n.6572+69_6572+70insAC
ENST00000525056.2:n.991+69_991+70insAC (ATM)
ENST00000682286.1:n.1329+69_1329+70insAC (ATM)
ENST00000682302.1:n.990+69_990+70insAC (ATM)
ENST00000683174.1:n.8056+69_8056+70insAC (ATM)
ENST00000683524.1:n.1796+69_1796+70insAC (ATM)
ENST00000684152.1:n.2286+69_2286+70insAC (ATM)
ENST00000527805.6:c.*1636+69_*1636+70insAC (ATM) ENSP00000435747.2:n.*1636+69_*1636+70insAC
ENST00000675595.1:c.*1707+69_*1707+70insAC (ATM) ENSP00000502563.1:n.*1707+69_*1707+70insAC
ENST00000675843.1:c.6572+69_6572+70insAC (ATM) MANE Select ENSP00000501606.1:n.6572+69_6572+70insAC
ENST00000278616.8:c.6572+69_6572+70insAC (ATM) ENSP00000278616.4:n.6572+69_6572+70insAC
ENST00000452508.6:c.6572+69_6572+70insAC (ATM) ENSP00000388058.2:n.6572+69_6572+70insAC
ENST00000524792.5:n.2787+69_2787+70insAC (ATM)
ENST00000525729.5:c.641-12419_641-12418insGT (C11orf65) ENSP00000433395.1:n.641-12419_641-12418insGT
ENST00000533690.5:n.1976+69_1976+70insAC (ATM)
NM_000051.3:c.6572+69_6572+70insAC , LRG_135t1:c.6572+69_6572+70insAC (ATM) NP_000042.3:n.6572+69_6572+70insAC
XM_005271561.3:c.6572+69_6572+70insAC (ATM) XP_005271618.2:n.6572+69_6572+70insAC
XM_005271562.3:c.6572+69_6572+70insAC (ATM) XP_005271619.2:n.6572+69_6572+70insAC
XM_006718843.2:c.6572+69_6572+70insAC (ATM) XP_006718906.1:n.6572+69_6572+70insAC
XM_006718845.1:c.2528+69_2528+70insAC (ATM) XP_006718908.1:n.2528+69_2528+70insAC
XM_011542840.1:c.6572+69_6572+70insAC (ATM) XP_011541142.1:n.6572+69_6572+70insAC
XM_011542841.1:c.6572+69_6572+70insAC (ATM) XP_011541143.1:n.6572+69_6572+70insAC
XM_011542842.1:c.6407+69_6407+70insAC (ATM) XP_011541144.1:n.6407+69_6407+70insAC
XM_011542843.1:c.6572+69_6572+70insAC (ATM) XP_011541145.1:n.6572+69_6572+70insAC
XM_011542844.1:c.5528+69_5528+70insAC (ATM) XP_011541146.1:n.5528+69_5528+70insAC
XM_011542845.1:c.5264+69_5264+70insAC (ATM) XP_011541147.1:n.5264+69_5264+70insAC
XM_011542847.1:c.1643+69_1643+70insAC (ATM) XP_011541149.1:n.1643+69_1643+70insAC
NM_001330368.1:c.641-12419_641-12418insGT (C11orf65) NP_001317297.1:n.641-12419_641-12418insGT
NM_001351110.1:c.*39-12419_*39-12418insGT (C11orf65) NP_001338039.1:n.*39-12419_*39-12418insGT
NM_001351834.1:c.6572+69_6572+70insAC (ATM) NP_001338763.1:n.6572+69_6572+70insAC
XM_005271562.5:c.6572+69_6572+70insAC (ATM) XP_005271619.2:n.6572+69_6572+70insAC
XM_006718843.4:c.6572+69_6572+70insAC (ATM) XP_006718906.1:n.6572+69_6572+70insAC
XM_006718845.2:c.2528+69_2528+70insAC (ATM) XP_006718908.1:n.2528+69_2528+70insAC
XM_011542840.3:c.6572+69_6572+70insAC (ATM) XP_011541142.1:n.6572+69_6572+70insAC
XM_011542842.3:c.6407+69_6407+70insAC (ATM) XP_011541144.1:n.6407+69_6407+70insAC
XM_011542843.2:c.6572+69_6572+70insAC (ATM) XP_011541145.1:n.6572+69_6572+70insAC
XM_011542844.3:c.5528+69_5528+70insAC (ATM) XP_011541146.1:n.5528+69_5528+70insAC
XM_011542845.2:c.5264+69_5264+70insAC (ATM) XP_011541147.1:n.5264+69_5264+70insAC
XM_017017789.2:c.6572+69_6572+70insAC (ATM) XP_016873278.1:n.6572+69_6572+70insAC
XM_017017790.2:c.6572+69_6572+70insAC (ATM) XP_016873279.1:n.6572+69_6572+70insAC
NM_001330368.2:c.641-12419_641-12418insGT (C11orf65) NP_001317297.1:n.641-12419_641-12418insGT
NM_001351110.2:c.*39-12419_*39-12418insGT (C11orf65) NP_001338039.1:n.*39-12419_*39-12418insGT
NM_001351834.2:c.6572+69_6572+70insAC (ATM) NP_001338763.1:n.6572+69_6572+70insAC
NM_000051.4:c.6572+69_6572+70insAC (ATM) MANE Select NP_000042.3:n.6572+69_6572+70insAC