Canonical Allele Identifier: CA1998807783
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108325401_108325416delinsCCTATCATGGCTCTAC , CM000673.2:g.108325401_108325416delinsCCTATCATGGCTCTAC GRCh38
NC_000011.9:g.108196128_108196143delinsCCTATCATGGCTCTAC , CM000673.1:g.108196128_108196143delinsCCTATCATGGCTCTAC GRCh37
NC_000011.8:g.107701338_107701353delinsCCTATCATGGCTCTAC NCBI36
NG_009830.1:g.107570_107585delinsCCTATCATGGCTCTAC , LRG_135:g.107570_107585delinsCCTATCATGGCTCTAC
NG_054724.1:g.149417_149432delinsGTAGAGCCATGATAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) ENSP00000388058.2:p.Pro2222=
ENST00000713593.1:c.*6135_*6150delinsCCTATCATGGCTCTAC (ATM) ENSP00000518889.1:n.*6135_*6150delinsCCTATCATGGCTCTAC
ENST00000278616.9:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) ENSP00000278616.4:p.Pro2222=
ENST00000525056.2:n.1083_1098delinsCCTATCATGGCTCTAC (ATM)
ENST00000682286.1:n.1421_1436delinsCCTATCATGGCTCTAC (ATM)
ENST00000682302.1:n.1082_1097delinsCCTATCATGGCTCTAC (ATM)
ENST00000683174.1:n.8148_8163delinsCCTATCATGGCTCTAC (ATM)
ENST00000683524.1:n.1888_1903delinsCCTATCATGGCTCTAC (ATM)
ENST00000684152.1:n.2378_2393delinsCCTATCATGGCTCTAC (ATM)
ENST00000527805.6:c.*1728_*1743delinsCCTATCATGGCTCTAC (ATM) ENSP00000435747.2:n.*1728_*1743delinsCCTATCATGGCTCTAC
ENST00000675595.1:c.*1799_*1814delinsCCTATCATGGCTCTAC (ATM) ENSP00000502563.1:n.*1799_*1814delinsCCTATCATGGCTCTAC
ENST00000675843.1:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) MANE Select ENSP00000501606.1:p.Pro2222=
ENST00000278616.8:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) ENSP00000278616.4:p.Pro2222=
ENST00000452508.6:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) ENSP00000388058.2:p.Pro2222=
ENST00000524792.5:n.2879_2894delinsCCTATCATGGCTCTAC (ATM)
ENST00000525729.5:c.641-16345_641-16330delinsGTAGAGCCATGATAGG (C11orf65) ENSP00000433395.1:n.641-16345_641-16330delinsGTAGAGCCATGATAGG...
ENST00000533690.5:n.2068_2083delinsCCTATCATGGCTCTAC (ATM)
NM_000051.3:c.6664_6679delinsCCTATCATGGCTCTAC , LRG_135t1:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) NP_000042.3:p.Pro2222=
XM_005271561.3:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_005271618.2:p.Pro2222=
XM_005271562.3:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_005271619.2:p.Pro2222=
XM_006718843.2:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_006718906.1:p.Pro2222=
XM_006718845.1:c.2620_2635delinsCCTATCATGGCTCTAC (ATM) XP_006718908.1:p.Pro874=
XM_011542840.1:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_011541142.1:p.Pro2222=
XM_011542841.1:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_011541143.1:p.Pro2222=
XM_011542842.1:c.6499_6514delinsCCTATCATGGCTCTAC (ATM) XP_011541144.1:p.Pro2167=
XM_011542843.1:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_011541145.1:p.Pro2222=
XM_011542844.1:c.5620_5635delinsCCTATCATGGCTCTAC (ATM) XP_011541146.1:p.Pro1874=
XM_011542845.1:c.5356_5371delinsCCTATCATGGCTCTAC (ATM) XP_011541147.1:p.Pro1786=
XM_011542847.1:c.1735_1750delinsCCTATCATGGCTCTAC (ATM) XP_011541149.1:p.Pro579=
NM_001330368.1:c.641-16345_641-16330delinsGTAGAGCCATGATAGG (C11orf65) NP_001317297.1:n.641-16345_641-16330delinsGTAGAGCCATGATAGG
NM_001351110.1:c.*38+9804_*38+9819delinsGTAGAGCCATGATAGG (C11orf65) NP_001338039.1:n.*38+9804_*38+9819delinsGTAGAGCCATGATAGG
NM_001351834.1:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) NP_001338763.1:p.Pro2222=
XM_005271562.5:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_005271619.2:p.Pro2222=
XM_006718843.4:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_006718906.1:p.Pro2222=
XM_006718845.2:c.2620_2635delinsCCTATCATGGCTCTAC (ATM) XP_006718908.1:p.Pro874=
XM_011542840.3:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_011541142.1:p.Pro2222=
XM_011542842.3:c.6499_6514delinsCCTATCATGGCTCTAC (ATM) XP_011541144.1:p.Pro2167=
XM_011542843.2:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_011541145.1:p.Pro2222=
XM_011542844.3:c.5620_5635delinsCCTATCATGGCTCTAC (ATM) XP_011541146.1:p.Pro1874=
XM_011542845.2:c.5356_5371delinsCCTATCATGGCTCTAC (ATM) XP_011541147.1:p.Pro1786=
XM_017017789.2:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_016873278.1:p.Pro2222=
XM_017017790.2:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) XP_016873279.1:p.Pro2222=
NM_001330368.2:c.641-16345_641-16330delinsGTAGAGCCATGATAGG (C11orf65) NP_001317297.1:n.641-16345_641-16330delinsGTAGAGCCATGATAGG
NM_001351110.2:c.*38+9804_*38+9819delinsGTAGAGCCATGATAGG (C11orf65) NP_001338039.1:n.*38+9804_*38+9819delinsGTAGAGCCATGATAGG
NM_001351834.2:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) NP_001338763.1:p.Pro2222=
NM_000051.4:c.6664_6679delinsCCTATCATGGCTCTAC (ATM) MANE Select NP_000042.3:p.Pro2222=