Canonical Allele Identifier: CA1998811009
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332700_108332702delinsACT , CM000673.2:g.108332700_108332702delinsACT GRCh38
NC_000011.9:g.108203427_108203429delinsACT , CM000673.1:g.108203427_108203429delinsACT GRCh37
NC_000011.8:g.107708637_107708639delinsACT NCBI36
NG_009830.1:g.114869_114871delinsACT , LRG_135:g.114869_114871delinsACT
NG_054724.1:g.142131_142133delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7789-62_7789-60delinsACT (ATM) ENSP00000388058.2:n.7789-62_7789-60delinsACT
ENST00000713593.1:c.*7260-62_*7260-60delinsACT (ATM) ENSP00000518889.1:n.*7260-62_*7260-60delinsACT
ENST00000278616.9:c.7789-62_7789-60delinsACT (ATM) ENSP00000278616.4:n.7789-62_7789-60delinsACT
ENST00000525056.2:n.2208-62_2208-60delinsACT (ATM)
ENST00000525537.3:n.1408_1410delinsACT (ATM)
ENST00000638786.2:n.625+663_625+665delinsACT (ATM)
ENST00000682286.1:n.2546-62_2546-60delinsACT (ATM)
ENST00000682302.1:n.2207-62_2207-60delinsACT (ATM)
ENST00000683174.1:n.9273-62_9273-60delinsACT (ATM)
ENST00000683524.1:n.3013-62_3013-60delinsACT (ATM)
ENST00000684152.1:n.3343+1143_3343+1145delinsACT (ATM)
ENST00000684180.1:n.201_203delinsACT (ATM)
ENST00000684447.1:n.3235_3237delinsACT (ATM)
ENST00000527805.6:c.*2853-62_*2853-60delinsACT (ATM) ENSP00000435747.2:n.*2853-62_*2853-60delinsACT
ENST00000675595.1:c.*2924-62_*2924-60delinsACT (ATM) ENSP00000502563.1:n.*2924-62_*2924-60delinsACT
ENST00000675843.1:c.7789-62_7789-60delinsACT (ATM) MANE Select ENSP00000501606.1:n.7789-62_7789-60delinsACT
ENST00000278616.8:c.7789-62_7789-60delinsACT (ATM) ENSP00000278616.4:n.7789-62_7789-60delinsACT
ENST00000452508.6:c.7789-62_7789-60delinsACT (ATM) ENSP00000388058.2:n.7789-62_7789-60delinsACT
ENST00000524755.5:c.300-1135_300-1133delinsAGT (C11orf65)
ENST00000524792.5:n.4004-62_4004-60delinsACT (ATM)
ENST00000525729.5:c.641-23631_641-23629delinsAGT (C11orf65) ENSP00000433395.1:n.641-23631_641-23629delinsAGT
ENST00000527531.5:c.*1270-1135_*1270-1133delinsAGT (C11orf65) ENSP00000431706.1:n.*1270-1135_*1270-1133delinsAGT
ENST00000533690.5:n.3193-62_3193-60delinsACT (ATM)
ENST00000615746.4:c.*1270-1135_*1270-1133delinsAGT (C11orf65) ENSP00000483537.1:n.*1270-1135_*1270-1133delinsAGT
NM_000051.3:c.7789-62_7789-60delinsACT , LRG_135t1:c.7789-62_7789-60delinsACT (ATM) NP_000042.3:n.7789-62_7789-60delinsACT
XM_005271414.3:c.*39-1135_*39-1133delinsAGT (C11orf65) XP_005271471.1:n.*39-1135_*39-1133delinsAGT
XM_005271415.3:c.805-1135_805-1133delinsAGT (C11orf65) XP_005271472.1:n.805-1135_805-1133delinsAGT
XM_005271561.3:c.7789-62_7789-60delinsACT (ATM) XP_005271618.2:n.7789-62_7789-60delinsACT
XM_005271562.3:c.7789-62_7789-60delinsACT (ATM) XP_005271619.2:n.7789-62_7789-60delinsACT
XM_006718843.2:c.7789-62_7789-60delinsACT (ATM) XP_006718906.1:n.7789-62_7789-60delinsACT
XM_006718845.1:c.3745-62_3745-60delinsACT (ATM) XP_006718908.1:n.3745-62_3745-60delinsACT
XM_011542840.1:c.7789-62_7789-60delinsACT (ATM) XP_011541142.1:n.7789-62_7789-60delinsACT
XM_011542841.1:c.7789-62_7789-60delinsACT (ATM) XP_011541143.1:n.7789-62_7789-60delinsACT
XM_011542842.1:c.7624-62_7624-60delinsACT (ATM) XP_011541144.1:n.7624-62_7624-60delinsACT
XM_011542843.1:c.7789-62_7789-60delinsACT (ATM) XP_011541145.1:n.7789-62_7789-60delinsACT
XM_011542844.1:c.6745-62_6745-60delinsACT (ATM) XP_011541146.1:n.6745-62_6745-60delinsACT
XM_011542845.1:c.6481-62_6481-60delinsACT (ATM) XP_011541147.1:n.6481-62_6481-60delinsACT
XM_011542847.1:c.2860-62_2860-60delinsACT (ATM) XP_011541149.1:n.2860-62_2860-60delinsACT
NM_001330368.1:c.641-23631_641-23629delinsAGT (C11orf65) NP_001317297.1:n.641-23631_641-23629delinsAGT
NM_001351110.1:c.*38+2518_*38+2520delinsAGT (C11orf65) NP_001338039.1:n.*38+2518_*38+2520delinsAGT
NM_001351834.1:c.7789-62_7789-60delinsACT (ATM) NP_001338763.1:n.7789-62_7789-60delinsACT
NR_147053.2:n.2375-1135_2375-1133delinsAGT (C11orf65)
XM_005271414.4:c.*39-1135_*39-1133delinsAGT (C11orf65) XP_005271471.1:n.*39-1135_*39-1133delinsAGT
XM_005271415.4:c.805-1135_805-1133delinsAGT (C11orf65) XP_005271472.1:n.805-1135_805-1133delinsAGT
XM_005271562.5:c.7789-62_7789-60delinsACT (ATM) XP_005271619.2:n.7789-62_7789-60delinsACT
XM_006718843.4:c.7789-62_7789-60delinsACT (ATM) XP_006718906.1:n.7789-62_7789-60delinsACT
XM_006718845.2:c.3745-62_3745-60delinsACT (ATM) XP_006718908.1:n.3745-62_3745-60delinsACT
XM_011542840.3:c.7789-62_7789-60delinsACT (ATM) XP_011541142.1:n.7789-62_7789-60delinsACT
XM_011542842.3:c.7624-62_7624-60delinsACT (ATM) XP_011541144.1:n.7624-62_7624-60delinsACT
XM_011542843.2:c.7789-62_7789-60delinsACT (ATM) XP_011541145.1:n.7789-62_7789-60delinsACT
XM_011542844.3:c.6745-62_6745-60delinsACT (ATM) XP_011541146.1:n.6745-62_6745-60delinsACT
XM_011542845.2:c.6481-62_6481-60delinsACT (ATM) XP_011541147.1:n.6481-62_6481-60delinsACT
XM_017017789.2:c.7789-62_7789-60delinsACT (ATM) XP_016873278.1:n.7789-62_7789-60delinsACT
XM_017017790.2:c.7789-62_7789-60delinsACT (ATM) XP_016873279.1:n.7789-62_7789-60delinsACT
NM_001330368.2:c.641-23631_641-23629delinsAGT (C11orf65) NP_001317297.1:n.641-23631_641-23629delinsAGT
NM_001351110.2:c.*38+2518_*38+2520delinsAGT (C11orf65) NP_001338039.1:n.*38+2518_*38+2520delinsAGT
NM_001351834.2:c.7789-62_7789-60delinsACT (ATM) NP_001338763.1:n.7789-62_7789-60delinsACT
NM_000051.4:c.7789-62_7789-60delinsACT (ATM) MANE Select NP_000042.3:n.7789-62_7789-60delinsACT
NR_147053.3:n.2373-1135_2373-1133delinsAGT (C11orf65)