Canonical Allele Identifier: CA2725242489
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136623605

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108334031_108334032del , CM000673.2:g.108334031_108334032del GRCh38
NC_000011.9:g.108204758_108204759del , CM000673.1:g.108204758_108204759del GRCh37
NC_000011.8:g.107709968_107709969del NCBI36
NG_009830.1:g.116200_116201del , LRG_135:g.116200_116201del
NG_054724.1:g.140801_140802del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8010+63_8010+64del (ATM) ENSP00000388058.2:n.8010+63_8010+64del
ENST00000713593.1:c.*7481+63_*7481+64del (ATM) ENSP00000518889.1:n.*7481+63_*7481+64del
ENST00000278616.9:c.8010+63_8010+64del (ATM) ENSP00000278616.4:n.8010+63_8010+64del
ENST00000525056.2:n.2429+63_2429+64del (ATM)
ENST00000638786.2:n.708+63_708+64del (ATM)
ENST00000682286.1:n.2767+63_2767+64del (ATM)
ENST00000682302.1:n.2428+63_2428+64del (ATM)
ENST00000683174.1:n.9494+63_9494+64del (ATM)
ENST00000683524.1:n.3234+63_3234+64del (ATM)
ENST00000684152.1:n.3426+63_3426+64del (ATM)
ENST00000684180.1:n.484+63_484+64del (ATM)
ENST00000684447.1:n.4503+63_4503+64del (ATM)
ENST00000527805.6:c.*3074+63_*3074+64del (ATM) ENSP00000435747.2:n.*3074+63_*3074+64del
ENST00000675595.1:c.*3145+63_*3145+64del (ATM) ENSP00000502563.1:n.*3145+63_*3145+64del
ENST00000675843.1:c.8010+63_8010+64del (ATM) MANE Select ENSP00000501606.1:n.8010+63_8010+64del
ENST00000278616.8:c.8010+63_8010+64del (ATM) ENSP00000278616.4:n.8010+63_8010+64del
ENST00000452508.6:c.8010+63_8010+64del (ATM) ENSP00000388058.2:n.8010+63_8010+64del
ENST00000524755.5:c.299+1188_299+1189del (C11orf65)
ENST00000524792.5:n.4225+63_4225+64del (ATM)
ENST00000525056.1:n.207+63_207+64del (ATM)
ENST00000525729.5:c.641-24961_641-24960del (C11orf65) ENSP00000433395.1:n.641-24961_641-24960del
ENST00000527531.5:c.*1269+1188_*1269+1189del (C11orf65) ENSP00000431706.1:n.*1269+1188_*1269+1189del
ENST00000533979.5:n.222+63_222+64del (ATM)
ENST00000615746.4:c.*1269+1188_*1269+1189del (C11orf65) ENSP00000483537.1:n.*1269+1188_*1269+1189del
NM_000051.3:c.8010+63_8010+64del , LRG_135t1:c.8010+63_8010+64del (ATM) NP_000042.3:n.8010+63_8010+64del
XM_005271414.3:c.*38+1188_*38+1189del (C11orf65) XP_005271471.1:n.*38+1188_*38+1189del
XM_005271415.3:c.804+1188_804+1189del (C11orf65) XP_005271472.1:n.804+1188_804+1189del
XM_005271561.3:c.8010+63_8010+64del (ATM) XP_005271618.2:n.8010+63_8010+64del
XM_005271562.3:c.8010+63_8010+64del (ATM) XP_005271619.2:n.8010+63_8010+64del
XM_006718843.2:c.8010+63_8010+64del (ATM) XP_006718906.1:n.8010+63_8010+64del
XM_006718845.1:c.3966+63_3966+64del (ATM) XP_006718908.1:n.3966+63_3966+64del
XM_011542840.1:c.8010+63_8010+64del (ATM) XP_011541142.1:n.8010+63_8010+64del
XM_011542841.1:c.8010+63_8010+64del (ATM) XP_011541143.1:n.8010+63_8010+64del
XM_011542842.1:c.7845+63_7845+64del (ATM) XP_011541144.1:n.7845+63_7845+64del
XM_011542843.1:c.8010+63_8010+64del (ATM) XP_011541145.1:n.8010+63_8010+64del
XM_011542844.1:c.6966+63_6966+64del (ATM) XP_011541146.1:n.6966+63_6966+64del
XM_011542845.1:c.6702+63_6702+64del (ATM) XP_011541147.1:n.6702+63_6702+64del
XM_011542847.1:c.3081+63_3081+64del (ATM) XP_011541149.1:n.3081+63_3081+64del
NM_001330368.1:c.641-24961_641-24960del (C11orf65) NP_001317297.1:n.641-24961_641-24960del
NM_001351110.1:c.*38+1188_*38+1189del (C11orf65) NP_001338039.1:n.*38+1188_*38+1189del
NM_001351834.1:c.8010+63_8010+64del (ATM) NP_001338763.1:n.8010+63_8010+64del
NR_147053.2:n.2374+1188_2374+1189del (C11orf65)
XM_005271414.4:c.*38+1188_*38+1189del (C11orf65) XP_005271471.1:n.*38+1188_*38+1189del
XM_005271415.4:c.804+1188_804+1189del (C11orf65) XP_005271472.1:n.804+1188_804+1189del
XM_005271562.5:c.8010+63_8010+64del (ATM) XP_005271619.2:n.8010+63_8010+64del
XM_006718843.4:c.8010+63_8010+64del (ATM) XP_006718906.1:n.8010+63_8010+64del
XM_006718845.2:c.3966+63_3966+64del (ATM) XP_006718908.1:n.3966+63_3966+64del
XM_011542840.3:c.8010+63_8010+64del (ATM) XP_011541142.1:n.8010+63_8010+64del
XM_011542842.3:c.7845+63_7845+64del (ATM) XP_011541144.1:n.7845+63_7845+64del
XM_011542843.2:c.8010+63_8010+64del (ATM) XP_011541145.1:n.8010+63_8010+64del
XM_011542844.3:c.6966+63_6966+64del (ATM) XP_011541146.1:n.6966+63_6966+64del
XM_011542845.2:c.6702+63_6702+64del (ATM) XP_011541147.1:n.6702+63_6702+64del
XM_017017789.2:c.8010+63_8010+64del (ATM) XP_016873278.1:n.8010+63_8010+64del
XM_017017790.2:c.8010+63_8010+64del (ATM) XP_016873279.1:n.8010+63_8010+64del
NM_001330368.2:c.641-24961_641-24960del (C11orf65) NP_001317297.1:n.641-24961_641-24960del
NM_001351110.2:c.*38+1188_*38+1189del (C11orf65) NP_001338039.1:n.*38+1188_*38+1189del
NM_001351834.2:c.8010+63_8010+64del (ATM) NP_001338763.1:n.8010+63_8010+64del
NM_000051.4:c.8010+63_8010+64del (ATM) MANE Select NP_000042.3:n.8010+63_8010+64del
NR_147053.3:n.2372+1188_2372+1189del (C11orf65)