Canonical Allele Identifier: CA1998801367
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108316195_108316196delinsGC , CM000673.2:g.108316195_108316196delinsGC GRCh38
NC_000011.9:g.108186922_108186923delinsGC , CM000673.1:g.108186922_108186923delinsGC GRCh37
NC_000011.8:g.107692132_107692133delinsGC NCBI36
NG_009830.1:g.98364_98365delinsGC , LRG_135:g.98364_98365delinsGC
NG_054724.1:g.158637_158638delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6198+82_6198+83delinsGC (ATM) ENSP00000388058.2:n.6198+82_6198+83delinsGC
ENST00000713593.1:c.*5669+82_*5669+83delinsGC (ATM) ENSP00000518889.1:n.*5669+82_*5669+83delinsGC
ENST00000278616.9:c.6198+82_6198+83delinsGC (ATM) ENSP00000278616.4:n.6198+82_6198+83delinsGC
ENST00000525056.2:n.617+82_617+83delinsGC (ATM)
ENST00000682286.1:n.955+82_955+83delinsGC (ATM)
ENST00000682302.1:n.616+82_616+83delinsGC (ATM)
ENST00000683174.1:n.7682+82_7682+83delinsGC (ATM)
ENST00000683524.1:n.1422+82_1422+83delinsGC (ATM)
ENST00000684152.1:n.1912+82_1912+83delinsGC (ATM)
ENST00000527805.6:c.*1262+82_*1262+83delinsGC (ATM) ENSP00000435747.2:n.*1262+82_*1262+83delinsGC
ENST00000675595.1:c.*1262+82_*1262+83delinsGC (ATM) ENSP00000502563.1:n.*1262+82_*1262+83delinsGC
ENST00000675843.1:c.6198+82_6198+83delinsGC (ATM) MANE Select ENSP00000501606.1:n.6198+82_6198+83delinsGC
ENST00000278616.8:c.6198+82_6198+83delinsGC (ATM) ENSP00000278616.4:n.6198+82_6198+83delinsGC
ENST00000452508.6:c.6198+82_6198+83delinsGC (ATM) ENSP00000388058.2:n.6198+82_6198+83delinsGC
ENST00000524792.5:n.2413+82_2413+83delinsGC (ATM)
ENST00000525729.5:c.641-7125_641-7124delinsGC (C11orf65) ENSP00000433395.1:n.641-7125_641-7124delinsGC
ENST00000532765.1:n.515+82_515+83delinsGC (ATM)
ENST00000533690.5:n.1602+82_1602+83delinsGC (ATM)
NM_000051.3:c.6198+82_6198+83delinsGC , LRG_135t1:c.6198+82_6198+83delinsGC (ATM) NP_000042.3:n.6198+82_6198+83delinsGC
XM_005271561.3:c.6198+82_6198+83delinsGC (ATM) XP_005271618.2:n.6198+82_6198+83delinsGC
XM_005271562.3:c.6198+82_6198+83delinsGC (ATM) XP_005271619.2:n.6198+82_6198+83delinsGC
XM_006718843.2:c.6198+82_6198+83delinsGC (ATM) XP_006718906.1:n.6198+82_6198+83delinsGC
XM_006718845.1:c.2154+82_2154+83delinsGC (ATM) XP_006718908.1:n.2154+82_2154+83delinsGC
XM_011542840.1:c.6198+82_6198+83delinsGC (ATM) XP_011541142.1:n.6198+82_6198+83delinsGC
XM_011542841.1:c.6198+82_6198+83delinsGC (ATM) XP_011541143.1:n.6198+82_6198+83delinsGC
XM_011542842.1:c.6033+82_6033+83delinsGC (ATM) XP_011541144.1:n.6033+82_6033+83delinsGC
XM_011542843.1:c.6198+82_6198+83delinsGC (ATM) XP_011541145.1:n.6198+82_6198+83delinsGC
XM_011542844.1:c.5154+82_5154+83delinsGC (ATM) XP_011541146.1:n.5154+82_5154+83delinsGC
XM_011542845.1:c.4890+82_4890+83delinsGC (ATM) XP_011541147.1:n.4890+82_4890+83delinsGC
XM_011542847.1:c.1269+82_1269+83delinsGC (ATM) XP_011541149.1:n.1269+82_1269+83delinsGC
NM_001330368.1:c.641-7125_641-7124delinsGC (C11orf65) NP_001317297.1:n.641-7125_641-7124delinsGC
NM_001351110.1:c.*39-7125_*39-7124delinsGC (C11orf65) NP_001338039.1:n.*39-7125_*39-7124delinsGC
NM_001351834.1:c.6198+82_6198+83delinsGC (ATM) NP_001338763.1:n.6198+82_6198+83delinsGC
XM_005271562.5:c.6198+82_6198+83delinsGC (ATM) XP_005271619.2:n.6198+82_6198+83delinsGC
XM_006718843.4:c.6198+82_6198+83delinsGC (ATM) XP_006718906.1:n.6198+82_6198+83delinsGC
XM_006718845.2:c.2154+82_2154+83delinsGC (ATM) XP_006718908.1:n.2154+82_2154+83delinsGC
XM_011542840.3:c.6198+82_6198+83delinsGC (ATM) XP_011541142.1:n.6198+82_6198+83delinsGC
XM_011542842.3:c.6033+82_6033+83delinsGC (ATM) XP_011541144.1:n.6033+82_6033+83delinsGC
XM_011542843.2:c.6198+82_6198+83delinsGC (ATM) XP_011541145.1:n.6198+82_6198+83delinsGC
XM_011542844.3:c.5154+82_5154+83delinsGC (ATM) XP_011541146.1:n.5154+82_5154+83delinsGC
XM_011542845.2:c.4890+82_4890+83delinsGC (ATM) XP_011541147.1:n.4890+82_4890+83delinsGC
XM_017017789.2:c.6198+82_6198+83delinsGC (ATM) XP_016873278.1:n.6198+82_6198+83delinsGC
XM_017017790.2:c.6198+82_6198+83delinsGC (ATM) XP_016873279.1:n.6198+82_6198+83delinsGC
XM_017017791.1:c.6198+82_6198+83delinsGC (ATM) XP_016873280.1:n.6198+82_6198+83delinsGC
NM_001330368.2:c.641-7125_641-7124delinsGC (C11orf65) NP_001317297.1:n.641-7125_641-7124delinsGC
NM_001351110.2:c.*39-7125_*39-7124delinsGC (C11orf65) NP_001338039.1:n.*39-7125_*39-7124delinsGC
NM_001351834.2:c.6198+82_6198+83delinsGC (ATM) NP_001338763.1:n.6198+82_6198+83delinsGC
NM_000051.4:c.6198+82_6198+83delinsGC (ATM) MANE Select NP_000042.3:n.6198+82_6198+83delinsGC