Canonical Allele Identifier: CA1998811952
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108334152_108334154delinsTCC , CM000673.2:g.108334152_108334154delinsTCC GRCh38
NC_000011.9:g.108204879_108204881delinsTCC , CM000673.1:g.108204879_108204881delinsTCC GRCh37
NC_000011.8:g.107710089_107710091delinsTCC NCBI36
NG_009830.1:g.116321_116323delinsTCC , LRG_135:g.116321_116323delinsTCC
NG_054724.1:g.140679_140681delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8010+184_8010+186delinsTCC (ATM) ENSP00000388058.2:n.8010+184_8010+186delinsTCC
ENST00000713593.1:c.*7481+184_*7481+186delinsTCC (ATM) ENSP00000518889.1:n.*7481+184_*7481+186delinsTCC
ENST00000278616.9:c.8010+184_8010+186delinsTCC (ATM) ENSP00000278616.4:n.8010+184_8010+186delinsTCC
ENST00000525056.2:n.2429+184_2429+186delinsTCC (ATM)
ENST00000638786.2:n.708+184_708+186delinsTCC (ATM)
ENST00000682286.1:n.2767+184_2767+186delinsTCC (ATM)
ENST00000682302.1:n.2428+184_2428+186delinsTCC (ATM)
ENST00000683174.1:n.9494+184_9494+186delinsTCC (ATM)
ENST00000683524.1:n.3234+184_3234+186delinsTCC (ATM)
ENST00000684152.1:n.3426+184_3426+186delinsTCC (ATM)
ENST00000684180.1:n.484+184_484+186delinsTCC (ATM)
ENST00000684447.1:n.4503+184_4503+186delinsTCC (ATM)
ENST00000527805.6:c.*3074+184_*3074+186delinsTCC (ATM) ENSP00000435747.2:n.*3074+184_*3074+186delinsTCC
ENST00000675595.1:c.*3145+184_*3145+186delinsTCC (ATM) ENSP00000502563.1:n.*3145+184_*3145+186delinsTCC
ENST00000675843.1:c.8010+184_8010+186delinsTCC (ATM) MANE Select ENSP00000501606.1:n.8010+184_8010+186delinsTCC
ENST00000278616.8:c.8010+184_8010+186delinsTCC (ATM) ENSP00000278616.4:n.8010+184_8010+186delinsTCC
ENST00000452508.6:c.8010+184_8010+186delinsTCC (ATM) ENSP00000388058.2:n.8010+184_8010+186delinsTCC
ENST00000524755.5:c.299+1066_299+1068delinsGGA (C11orf65)
ENST00000524792.5:n.4225+184_4225+186delinsTCC (ATM)
ENST00000525056.1:n.207+184_207+186delinsTCC (ATM)
ENST00000525729.5:c.641-25083_641-25081delinsGGA (C11orf65) ENSP00000433395.1:n.641-25083_641-25081delinsGGA
ENST00000527531.5:c.*1269+1066_*1269+1068delinsGGA (C11orf65) ENSP00000431706.1:n.*1269+1066_*1269+1068delinsGGA
ENST00000533979.5:n.222+184_222+186delinsTCC (ATM)
ENST00000615746.4:c.*1269+1066_*1269+1068delinsGGA (C11orf65) ENSP00000483537.1:n.*1269+1066_*1269+1068delinsGGA
NM_000051.3:c.8010+184_8010+186delinsTCC , LRG_135t1:c.8010+184_8010+186delinsTCC (ATM) NP_000042.3:n.8010+184_8010+186delinsTCC
XM_005271414.3:c.*38+1066_*38+1068delinsGGA (C11orf65) XP_005271471.1:n.*38+1066_*38+1068delinsGGA
XM_005271415.3:c.804+1066_804+1068delinsGGA (C11orf65) XP_005271472.1:n.804+1066_804+1068delinsGGA
XM_005271561.3:c.8010+184_8010+186delinsTCC (ATM) XP_005271618.2:n.8010+184_8010+186delinsTCC
XM_005271562.3:c.8010+184_8010+186delinsTCC (ATM) XP_005271619.2:n.8010+184_8010+186delinsTCC
XM_006718843.2:c.8010+184_8010+186delinsTCC (ATM) XP_006718906.1:n.8010+184_8010+186delinsTCC
XM_006718845.1:c.3966+184_3966+186delinsTCC (ATM) XP_006718908.1:n.3966+184_3966+186delinsTCC
XM_011542840.1:c.8010+184_8010+186delinsTCC (ATM) XP_011541142.1:n.8010+184_8010+186delinsTCC
XM_011542841.1:c.8010+184_8010+186delinsTCC (ATM) XP_011541143.1:n.8010+184_8010+186delinsTCC
XM_011542842.1:c.7845+184_7845+186delinsTCC (ATM) XP_011541144.1:n.7845+184_7845+186delinsTCC
XM_011542843.1:c.8010+184_8010+186delinsTCC (ATM) XP_011541145.1:n.8010+184_8010+186delinsTCC
XM_011542844.1:c.6966+184_6966+186delinsTCC (ATM) XP_011541146.1:n.6966+184_6966+186delinsTCC
XM_011542845.1:c.6702+184_6702+186delinsTCC (ATM) XP_011541147.1:n.6702+184_6702+186delinsTCC
XM_011542847.1:c.3081+184_3081+186delinsTCC (ATM) XP_011541149.1:n.3081+184_3081+186delinsTCC
NM_001330368.1:c.641-25083_641-25081delinsGGA (C11orf65) NP_001317297.1:n.641-25083_641-25081delinsGGA
NM_001351110.1:c.*38+1066_*38+1068delinsGGA (C11orf65) NP_001338039.1:n.*38+1066_*38+1068delinsGGA
NM_001351834.1:c.8010+184_8010+186delinsTCC (ATM) NP_001338763.1:n.8010+184_8010+186delinsTCC
NR_147053.2:n.2374+1066_2374+1068delinsGGA (C11orf65)
XM_005271414.4:c.*38+1066_*38+1068delinsGGA (C11orf65) XP_005271471.1:n.*38+1066_*38+1068delinsGGA
XM_005271415.4:c.804+1066_804+1068delinsGGA (C11orf65) XP_005271472.1:n.804+1066_804+1068delinsGGA
XM_005271562.5:c.8010+184_8010+186delinsTCC (ATM) XP_005271619.2:n.8010+184_8010+186delinsTCC
XM_006718843.4:c.8010+184_8010+186delinsTCC (ATM) XP_006718906.1:n.8010+184_8010+186delinsTCC
XM_006718845.2:c.3966+184_3966+186delinsTCC (ATM) XP_006718908.1:n.3966+184_3966+186delinsTCC
XM_011542840.3:c.8010+184_8010+186delinsTCC (ATM) XP_011541142.1:n.8010+184_8010+186delinsTCC
XM_011542842.3:c.7845+184_7845+186delinsTCC (ATM) XP_011541144.1:n.7845+184_7845+186delinsTCC
XM_011542843.2:c.8010+184_8010+186delinsTCC (ATM) XP_011541145.1:n.8010+184_8010+186delinsTCC
XM_011542844.3:c.6966+184_6966+186delinsTCC (ATM) XP_011541146.1:n.6966+184_6966+186delinsTCC
XM_011542845.2:c.6702+184_6702+186delinsTCC (ATM) XP_011541147.1:n.6702+184_6702+186delinsTCC
XM_017017789.2:c.8010+184_8010+186delinsTCC (ATM) XP_016873278.1:n.8010+184_8010+186delinsTCC
XM_017017790.2:c.8010+184_8010+186delinsTCC (ATM) XP_016873279.1:n.8010+184_8010+186delinsTCC
NM_001330368.2:c.641-25083_641-25081delinsGGA (C11orf65) NP_001317297.1:n.641-25083_641-25081delinsGGA
NM_001351110.2:c.*38+1066_*38+1068delinsGGA (C11orf65) NP_001338039.1:n.*38+1066_*38+1068delinsGGA
NM_001351834.2:c.8010+184_8010+186delinsTCC (ATM) NP_001338763.1:n.8010+184_8010+186delinsTCC
NM_000051.4:c.8010+184_8010+186delinsTCC (ATM) MANE Select NP_000042.3:n.8010+184_8010+186delinsTCC
NR_147053.3:n.2372+1066_2372+1068delinsGGA (C11orf65)