Canonical Allele Identifier: CA1998810993
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332681_108332687delinsTTTTCTC , CM000673.2:g.108332681_108332687delinsTTTTCTC GRCh38
NC_000011.9:g.108203408_108203414delinsTTTTCTC , CM000673.1:g.108203408_108203414delinsTTTTCTC GRCh37
NC_000011.8:g.107708618_107708624delinsTTTTCTC NCBI36
NG_009830.1:g.114850_114856delinsTTTTCTC , LRG_135:g.114850_114856delinsTTTTCTC
NG_054724.1:g.142146_142152delinsGAGAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7789-81_7789-75delinsTTTTCTC (ATM) ENSP00000388058.2:n.7789-81_7789-75delinsTTTTCTC
ENST00000713593.1:c.*7260-81_*7260-75delinsTTTTCTC (ATM) ENSP00000518889.1:n.*7260-81_*7260-75delinsTTTTCTC
ENST00000278616.9:c.7789-81_7789-75delinsTTTTCTC (ATM) ENSP00000278616.4:n.7789-81_7789-75delinsTTTTCTC
ENST00000525056.2:n.2208-81_2208-75delinsTTTTCTC (ATM)
ENST00000525537.3:n.1389_1395delinsTTTTCTC (ATM)
ENST00000638786.2:n.625+644_625+650delinsTTTTCTC (ATM)
ENST00000682286.1:n.2546-81_2546-75delinsTTTTCTC (ATM)
ENST00000682302.1:n.2207-81_2207-75delinsTTTTCTC (ATM)
ENST00000683174.1:n.9273-81_9273-75delinsTTTTCTC (ATM)
ENST00000683524.1:n.3013-81_3013-75delinsTTTTCTC (ATM)
ENST00000684152.1:n.3343+1124_3343+1130delinsTTTTCTC (ATM)
ENST00000684180.1:n.182_188delinsTTTTCTC (ATM)
ENST00000684447.1:n.3216_3222delinsTTTTCTC (ATM)
ENST00000527805.6:c.*2853-81_*2853-75delinsTTTTCTC (ATM) ENSP00000435747.2:n.*2853-81_*2853-75delinsTTTTCTC
ENST00000675595.1:c.*2924-81_*2924-75delinsTTTTCTC (ATM) ENSP00000502563.1:n.*2924-81_*2924-75delinsTTTTCTC
ENST00000675843.1:c.7789-81_7789-75delinsTTTTCTC (ATM) MANE Select ENSP00000501606.1:n.7789-81_7789-75delinsTTTTCTC
ENST00000278616.8:c.7789-81_7789-75delinsTTTTCTC (ATM) ENSP00000278616.4:n.7789-81_7789-75delinsTTTTCTC
ENST00000452508.6:c.7789-81_7789-75delinsTTTTCTC (ATM) ENSP00000388058.2:n.7789-81_7789-75delinsTTTTCTC
ENST00000524755.5:c.300-1120_300-1114delinsGAGAAAA (C11orf65)
ENST00000524792.5:n.4004-81_4004-75delinsTTTTCTC (ATM)
ENST00000525729.5:c.641-23616_641-23610delinsGAGAAAA (C11orf65) ENSP00000433395.1:n.641-23616_641-23610delinsGAGAAAA
ENST00000527531.5:c.*1270-1120_*1270-1114delinsGAGAAAA (C11orf65) ENSP00000431706.1:n.*1270-1120_*1270-1114delinsGAGAAAA
ENST00000533690.5:n.3193-81_3193-75delinsTTTTCTC (ATM)
ENST00000615746.4:c.*1270-1120_*1270-1114delinsGAGAAAA (C11orf65) ENSP00000483537.1:n.*1270-1120_*1270-1114delinsGAGAAAA
NM_000051.3:c.7789-81_7789-75delinsTTTTCTC , LRG_135t1:c.7789-81_7789-75delinsTTTTCTC (ATM) NP_000042.3:n.7789-81_7789-75delinsTTTTCTC
XM_005271414.3:c.*39-1120_*39-1114delinsGAGAAAA (C11orf65) XP_005271471.1:n.*39-1120_*39-1114delinsGAGAAAA
XM_005271415.3:c.805-1120_805-1114delinsGAGAAAA (C11orf65) XP_005271472.1:n.805-1120_805-1114delinsGAGAAAA
XM_005271561.3:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_005271618.2:n.7789-81_7789-75delinsTTTTCTC
XM_005271562.3:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_005271619.2:n.7789-81_7789-75delinsTTTTCTC
XM_006718843.2:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_006718906.1:n.7789-81_7789-75delinsTTTTCTC
XM_006718845.1:c.3745-81_3745-75delinsTTTTCTC (ATM) XP_006718908.1:n.3745-81_3745-75delinsTTTTCTC
XM_011542840.1:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_011541142.1:n.7789-81_7789-75delinsTTTTCTC
XM_011542841.1:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_011541143.1:n.7789-81_7789-75delinsTTTTCTC
XM_011542842.1:c.7624-81_7624-75delinsTTTTCTC (ATM) XP_011541144.1:n.7624-81_7624-75delinsTTTTCTC
XM_011542843.1:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_011541145.1:n.7789-81_7789-75delinsTTTTCTC
XM_011542844.1:c.6745-81_6745-75delinsTTTTCTC (ATM) XP_011541146.1:n.6745-81_6745-75delinsTTTTCTC
XM_011542845.1:c.6481-81_6481-75delinsTTTTCTC (ATM) XP_011541147.1:n.6481-81_6481-75delinsTTTTCTC
XM_011542847.1:c.2860-81_2860-75delinsTTTTCTC (ATM) XP_011541149.1:n.2860-81_2860-75delinsTTTTCTC
NM_001330368.1:c.641-23616_641-23610delinsGAGAAAA (C11orf65) NP_001317297.1:n.641-23616_641-23610delinsGAGAAAA
NM_001351110.1:c.*38+2533_*38+2539delinsGAGAAAA (C11orf65) NP_001338039.1:n.*38+2533_*38+2539delinsGAGAAAA
NM_001351834.1:c.7789-81_7789-75delinsTTTTCTC (ATM) NP_001338763.1:n.7789-81_7789-75delinsTTTTCTC
NR_147053.2:n.2375-1120_2375-1114delinsGAGAAAA (C11orf65)
XM_005271414.4:c.*39-1120_*39-1114delinsGAGAAAA (C11orf65) XP_005271471.1:n.*39-1120_*39-1114delinsGAGAAAA
XM_005271415.4:c.805-1120_805-1114delinsGAGAAAA (C11orf65) XP_005271472.1:n.805-1120_805-1114delinsGAGAAAA
XM_005271562.5:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_005271619.2:n.7789-81_7789-75delinsTTTTCTC
XM_006718843.4:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_006718906.1:n.7789-81_7789-75delinsTTTTCTC
XM_006718845.2:c.3745-81_3745-75delinsTTTTCTC (ATM) XP_006718908.1:n.3745-81_3745-75delinsTTTTCTC
XM_011542840.3:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_011541142.1:n.7789-81_7789-75delinsTTTTCTC
XM_011542842.3:c.7624-81_7624-75delinsTTTTCTC (ATM) XP_011541144.1:n.7624-81_7624-75delinsTTTTCTC
XM_011542843.2:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_011541145.1:n.7789-81_7789-75delinsTTTTCTC
XM_011542844.3:c.6745-81_6745-75delinsTTTTCTC (ATM) XP_011541146.1:n.6745-81_6745-75delinsTTTTCTC
XM_011542845.2:c.6481-81_6481-75delinsTTTTCTC (ATM) XP_011541147.1:n.6481-81_6481-75delinsTTTTCTC
XM_017017789.2:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_016873278.1:n.7789-81_7789-75delinsTTTTCTC
XM_017017790.2:c.7789-81_7789-75delinsTTTTCTC (ATM) XP_016873279.1:n.7789-81_7789-75delinsTTTTCTC
NM_001330368.2:c.641-23616_641-23610delinsGAGAAAA (C11orf65) NP_001317297.1:n.641-23616_641-23610delinsGAGAAAA
NM_001351110.2:c.*38+2533_*38+2539delinsGAGAAAA (C11orf65) NP_001338039.1:n.*38+2533_*38+2539delinsGAGAAAA
NM_001351834.2:c.7789-81_7789-75delinsTTTTCTC (ATM) NP_001338763.1:n.7789-81_7789-75delinsTTTTCTC
NM_000051.4:c.7789-81_7789-75delinsTTTTCTC (ATM) MANE Select NP_000042.3:n.7789-81_7789-75delinsTTTTCTC
NR_147053.3:n.2373-1120_2373-1114delinsGAGAAAA (C11orf65)