Canonical Allele Identifier: CA1998811836
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010644
dbSNP Id: rs2086551461

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108333938_108333940del , CM000673.2:g.108333938_108333940del GRCh38
NC_000011.9:g.108204665_108204667del , CM000673.1:g.108204665_108204667del GRCh37
NC_000011.8:g.107709875_107709877del NCBI36
NG_009830.1:g.116107_116109del , LRG_135:g.116107_116109del
NG_054724.1:g.140896_140898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7980_7982del (ATM) ENSP00000388058.2:p.Glu2660del
ENST00000713593.1:c.*7451_*7453del (ATM) ENSP00000518889.1:n.*7451_*7453del
ENST00000278616.9:c.7980_7982del (ATM) ENSP00000278616.4:p.Glu2660del
ENST00000525056.2:n.2399_2401del (ATM)
ENST00000638786.2:n.678_680del (ATM)
ENST00000682286.1:n.2737_2739del (ATM)
ENST00000682302.1:n.2398_2400del (ATM)
ENST00000683174.1:n.9464_9466del (ATM)
ENST00000683524.1:n.3204_3206del (ATM)
ENST00000684152.1:n.3396_3398del (ATM)
ENST00000684180.1:n.454_456del (ATM)
ENST00000684447.1:n.4473_4475del (ATM)
ENST00000527805.6:c.*3044_*3046del (ATM) ENSP00000435747.2:n.*3044_*3046del
ENST00000675595.1:c.*3115_*3117del (ATM) ENSP00000502563.1:n.*3115_*3117del
ENST00000675843.1:c.7980_7982del (ATM) MANE Select ENSP00000501606.1:p.Glu2660del
ENST00000278616.8:c.7980_7982del (ATM) ENSP00000278616.4:p.Glu2660del
ENST00000452508.6:c.7980_7982del (ATM) ENSP00000388058.2:p.Glu2660del
ENST00000524755.5:c.299+1283_299+1285del (C11orf65)
ENST00000524792.5:n.4195_4197del (ATM)
ENST00000525056.1:n.177_179del (ATM)
ENST00000525729.5:c.641-24866_641-24864del (C11orf65) ENSP00000433395.1:n.641-24866_641-24864del
ENST00000527531.5:c.*1269+1283_*1269+1285del (C11orf65) ENSP00000431706.1:n.*1269+1283_*1269+1285del
ENST00000533979.5:n.192_194del (ATM)
ENST00000615746.4:c.*1269+1283_*1269+1285del (C11orf65) ENSP00000483537.1:n.*1269+1283_*1269+1285del
NM_000051.3:c.7980_7982del , LRG_135t1:c.7980_7982del (ATM) NP_000042.3:p.Glu2660del
XM_005271414.3:c.*38+1283_*38+1285del (C11orf65) XP_005271471.1:n.*38+1283_*38+1285del
XM_005271415.3:c.804+1283_804+1285del (C11orf65) XP_005271472.1:n.804+1283_804+1285del
XM_005271561.3:c.7980_7982del (ATM) XP_005271618.2:p.Glu2660del
XM_005271562.3:c.7980_7982del (ATM) XP_005271619.2:p.Glu2660del
XM_006718843.2:c.7980_7982del (ATM) XP_006718906.1:p.Glu2660del
XM_006718845.1:c.3936_3938del (ATM) XP_006718908.1:p.Glu1312del
XM_011542840.1:c.7980_7982del (ATM) XP_011541142.1:p.Glu2660del
XM_011542841.1:c.7980_7982del (ATM) XP_011541143.1:p.Glu2660del
XM_011542842.1:c.7815_7817del (ATM) XP_011541144.1:p.Glu2605del
XM_011542843.1:c.7980_7982del (ATM) XP_011541145.1:p.Glu2660del
XM_011542844.1:c.6936_6938del (ATM) XP_011541146.1:p.Glu2312del
XM_011542845.1:c.6672_6674del (ATM) XP_011541147.1:p.Glu2224del
XM_011542847.1:c.3051_3053del (ATM) XP_011541149.1:p.Glu1017del
NM_001330368.1:c.641-24866_641-24864del (C11orf65) NP_001317297.1:n.641-24866_641-24864del
NM_001351110.1:c.*38+1283_*38+1285del (C11orf65) NP_001338039.1:n.*38+1283_*38+1285del
NM_001351834.1:c.7980_7982del (ATM) NP_001338763.1:p.Glu2660del
NR_147053.2:n.2374+1283_2374+1285del (C11orf65)
XM_005271414.4:c.*38+1283_*38+1285del (C11orf65) XP_005271471.1:n.*38+1283_*38+1285del
XM_005271415.4:c.804+1283_804+1285del (C11orf65) XP_005271472.1:n.804+1283_804+1285del
XM_005271562.5:c.7980_7982del (ATM) XP_005271619.2:p.Glu2660del
XM_006718843.4:c.7980_7982del (ATM) XP_006718906.1:p.Glu2660del
XM_006718845.2:c.3936_3938del (ATM) XP_006718908.1:p.Glu1312del
XM_011542840.3:c.7980_7982del (ATM) XP_011541142.1:p.Glu2660del
XM_011542842.3:c.7815_7817del (ATM) XP_011541144.1:p.Glu2605del
XM_011542843.2:c.7980_7982del (ATM) XP_011541145.1:p.Glu2660del
XM_011542844.3:c.6936_6938del (ATM) XP_011541146.1:p.Glu2312del
XM_011542845.2:c.6672_6674del (ATM) XP_011541147.1:p.Glu2224del
XM_017017789.2:c.7980_7982del (ATM) XP_016873278.1:p.Glu2660del
XM_017017790.2:c.7980_7982del (ATM) XP_016873279.1:p.Glu2660del
NM_001330368.2:c.641-24866_641-24864del (C11orf65) NP_001317297.1:n.641-24866_641-24864del
NM_001351110.2:c.*38+1283_*38+1285del (C11orf65) NP_001338039.1:n.*38+1283_*38+1285del
NM_001351834.2:c.7980_7982del (ATM) NP_001338763.1:p.Glu2660del
NM_000051.4:c.7980_7982del (ATM) MANE Select NP_000042.3:p.Glu2660del
NR_147053.3:n.2372+1283_2372+1285del (C11orf65)