Canonical Allele Identifier: CA1998812362
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335060_108335062delinsTAA , CM000673.2:g.108335060_108335062delinsTAA GRCh38
NC_000011.9:g.108205787_108205789delinsTAA , CM000673.1:g.108205787_108205789delinsTAA GRCh37
NC_000011.8:g.107710997_107710999delinsTAA NCBI36
NG_009830.1:g.117229_117231delinsTAA , LRG_135:g.117229_117231delinsTAA
NG_054724.1:g.139771_139773delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8102_8104delinsTAA (ATM) ENSP00000388058.2:p.Ile2701=
ENST00000713593.1:c.*7573_*7575delinsTAA (ATM) ENSP00000518889.1:n.*7573_*7575delinsTAA
ENST00000278616.9:c.8102_8104delinsTAA (ATM) ENSP00000278616.4:p.Ile2701=
ENST00000525056.2:n.2521_2523delinsTAA (ATM)
ENST00000638786.2:n.800_802delinsTAA (ATM)
ENST00000682286.1:n.2859_2861delinsTAA (ATM)
ENST00000682302.1:n.2520_2522delinsTAA (ATM)
ENST00000683174.1:n.9586_9588delinsTAA (ATM)
ENST00000683524.1:n.3326_3328delinsTAA (ATM)
ENST00000684152.1:n.3518_3520delinsTAA (ATM)
ENST00000684180.1:n.576_578delinsTAA (ATM)
ENST00000684447.1:n.4595_4597delinsTAA (ATM)
ENST00000527805.6:c.*3166_*3168delinsTAA (ATM) ENSP00000435747.2:n.*3166_*3168delinsTAA
ENST00000675595.1:c.*3237_*3239delinsTAA (ATM) ENSP00000502563.1:n.*3237_*3239delinsTAA
ENST00000675843.1:c.8102_8104delinsTAA (ATM) MANE Select ENSP00000501606.1:p.Ile2701=
ENST00000278616.8:c.8102_8104delinsTAA (ATM) ENSP00000278616.4:p.Ile2701=
ENST00000452508.6:c.8102_8104delinsTAA (ATM) ENSP00000388058.2:p.Ile2701=
ENST00000524755.5:c.299+158_299+160delinsTTA (C11orf65)
ENST00000524792.5:n.4317_4319delinsTAA (ATM)
ENST00000525056.1:n.299_301delinsTAA (ATM)
ENST00000525729.5:c.641-25991_641-25989delinsTTA (C11orf65) ENSP00000433395.1:n.641-25991_641-25989delinsTTA
ENST00000527531.5:c.*1269+158_*1269+160delinsTTA (C11orf65) ENSP00000431706.1:n.*1269+158_*1269+160delinsTTA
ENST00000533979.5:n.314_316delinsTAA (ATM)
ENST00000615746.4:c.*1269+158_*1269+160delinsTTA (C11orf65) ENSP00000483537.1:n.*1269+158_*1269+160delinsTTA
NM_000051.3:c.8102_8104delinsTAA , LRG_135t1:c.8102_8104delinsTAA (ATM) NP_000042.3:p.Ile2701=
XM_005271414.3:c.*38+158_*38+160delinsTTA (C11orf65) XP_005271471.1:n.*38+158_*38+160delinsTTA
XM_005271415.3:c.804+158_804+160delinsTTA (C11orf65) XP_005271472.1:n.804+158_804+160delinsTTA
XM_005271561.3:c.8102_8104delinsTAA (ATM) XP_005271618.2:p.Ile2701=
XM_005271562.3:c.8102_8104delinsTAA (ATM) XP_005271619.2:p.Ile2701=
XM_006718843.2:c.8102_8104delinsTAA (ATM) XP_006718906.1:p.Ile2701=
XM_006718845.1:c.4058_4060delinsTAA (ATM) XP_006718908.1:p.Ile1353=
XM_011542840.1:c.8102_8104delinsTAA (ATM) XP_011541142.1:p.Ile2701=
XM_011542841.1:c.8102_8104delinsTAA (ATM) XP_011541143.1:p.Ile2701=
XM_011542842.1:c.7937_7939delinsTAA (ATM) XP_011541144.1:p.Ile2646=
XM_011542843.1:c.8102_8104delinsTAA (ATM) XP_011541145.1:p.Ile2701=
XM_011542844.1:c.7058_7060delinsTAA (ATM) XP_011541146.1:p.Ile2353=
XM_011542845.1:c.6794_6796delinsTAA (ATM) XP_011541147.1:p.Ile2265=
XM_011542847.1:c.3173_3175delinsTAA (ATM) XP_011541149.1:p.Ile1058=
NM_001330368.1:c.641-25991_641-25989delinsTTA (C11orf65) NP_001317297.1:n.641-25991_641-25989delinsTTA
NM_001351110.1:c.*38+158_*38+160delinsTTA (C11orf65) NP_001338039.1:n.*38+158_*38+160delinsTTA
NM_001351834.1:c.8102_8104delinsTAA (ATM) NP_001338763.1:p.Ile2701=
NR_147053.2:n.2374+158_2374+160delinsTTA (C11orf65)
XM_005271414.4:c.*38+158_*38+160delinsTTA (C11orf65) XP_005271471.1:n.*38+158_*38+160delinsTTA
XM_005271415.4:c.804+158_804+160delinsTTA (C11orf65) XP_005271472.1:n.804+158_804+160delinsTTA
XM_005271562.5:c.8102_8104delinsTAA (ATM) XP_005271619.2:p.Ile2701=
XM_006718843.4:c.8102_8104delinsTAA (ATM) XP_006718906.1:p.Ile2701=
XM_006718845.2:c.4058_4060delinsTAA (ATM) XP_006718908.1:p.Ile1353=
XM_011542840.3:c.8102_8104delinsTAA (ATM) XP_011541142.1:p.Ile2701=
XM_011542842.3:c.7937_7939delinsTAA (ATM) XP_011541144.1:p.Ile2646=
XM_011542843.2:c.8102_8104delinsTAA (ATM) XP_011541145.1:p.Ile2701=
XM_011542844.3:c.7058_7060delinsTAA (ATM) XP_011541146.1:p.Ile2353=
XM_011542845.2:c.6794_6796delinsTAA (ATM) XP_011541147.1:p.Ile2265=
XM_017017789.2:c.8102_8104delinsTAA (ATM) XP_016873278.1:p.Ile2701=
XM_017017790.2:c.8102_8104delinsTAA (ATM) XP_016873279.1:p.Ile2701=
NM_001330368.2:c.641-25991_641-25989delinsTTA (C11orf65) NP_001317297.1:n.641-25991_641-25989delinsTTA
NM_001351110.2:c.*38+158_*38+160delinsTTA (C11orf65) NP_001338039.1:n.*38+158_*38+160delinsTTA
NM_001351834.2:c.8102_8104delinsTAA (ATM) NP_001338763.1:p.Ile2701=
NM_000051.4:c.8102_8104delinsTAA (ATM) MANE Select NP_000042.3:p.Ile2701=
NR_147053.3:n.2372+158_2372+160delinsTTA (C11orf65)