Canonical Allele Identifier: CA2615860223
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108327799_108327800insATTCATGCTAA , CM000673.2:g.108327799_108327800insATTCATGCTAA GRCh38
NC_000011.9:g.108198526_108198527insATTCATGCTAA , CM000673.1:g.108198526_108198527insATTCATGCTAA GRCh37
NC_000011.8:g.107703736_107703737insATTCATGCTAA NCBI36
NG_009830.1:g.109968_109969insATTCATGCTAA , LRG_135:g.109968_109969insATTCATGCTAA
NG_054724.1:g.147033_147034insTTAGCATGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7089+41_7089+42insATTCATGCTAA (ATM) ENSP00000388058.2:n.7089+41_7089+42insATTCATGCTAA
ENST00000713593.1:c.*6560+41_*6560+42insATTCATGCTAA (ATM) ENSP00000518889.1:n.*6560+41_*6560+42insATTCATGCTAA
ENST00000278616.9:c.7089+41_7089+42insATTCATGCTAA (ATM) ENSP00000278616.4:n.7089+41_7089+42insATTCATGCTAA
ENST00000525056.2:n.1508+41_1508+42insATTCATGCTAA (ATM)
ENST00000525537.3:n.46+41_46+42insATTCATGCTAA (ATM)
ENST00000682286.1:n.1846+41_1846+42insATTCATGCTAA (ATM)
ENST00000682302.1:n.1507+41_1507+42insATTCATGCTAA (ATM)
ENST00000683174.1:n.8573+41_8573+42insATTCATGCTAA (ATM)
ENST00000683524.1:n.2313+41_2313+42insATTCATGCTAA (ATM)
ENST00000684152.1:n.2803+41_2803+42insATTCATGCTAA (ATM)
ENST00000684447.1:n.1552+41_1552+42insATTCATGCTAA (ATM)
ENST00000527805.6:c.*2153+41_*2153+42insATTCATGCTAA (ATM) ENSP00000435747.2:n.*2153+41_*2153+42insATTCATGCTAA
ENST00000675595.1:c.*2224+41_*2224+42insATTCATGCTAA (ATM) ENSP00000502563.1:n.*2224+41_*2224+42insATTCATGCTAA
ENST00000675843.1:c.7089+41_7089+42insATTCATGCTAA (ATM) MANE Select ENSP00000501606.1:n.7089+41_7089+42insATTCATGCTAA
ENST00000278616.8:c.7089+41_7089+42insATTCATGCTAA (ATM) ENSP00000278616.4:n.7089+41_7089+42insATTCATGCTAA
ENST00000452508.6:c.7089+41_7089+42insATTCATGCTAA (ATM) ENSP00000388058.2:n.7089+41_7089+42insATTCATGCTAA
ENST00000524792.5:n.3304+41_3304+42insATTCATGCTAA (ATM)
ENST00000525537.2:n.365+41_365+42insATTCATGCTAA (ATM)
ENST00000525729.5:c.641-18729_641-18728insTTAGCATGAAT (C11orf65) ENSP00000433395.1:n.641-18729_641-18728insTTAGCATGAAT
ENST00000527389.2:n.114+41_114+42insATTCATGCTAA (ATM)
ENST00000533690.5:n.2493+41_2493+42insATTCATGCTAA (ATM)
NM_000051.3:c.7089+41_7089+42insATTCATGCTAA , LRG_135t1:c.7089+41_7089+42insATTCATGCTAA (ATM) NP_000042.3:n.7089+41_7089+42insATTCATGCTAA
XM_005271561.3:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_005271618.2:n.7089+41_7089+42insATTCATGCTAA
XM_005271562.3:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_005271619.2:n.7089+41_7089+42insATTCATGCTAA
XM_006718843.2:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_006718906.1:n.7089+41_7089+42insATTCATGCTAA
XM_006718845.1:c.3045+41_3045+42insATTCATGCTAA (ATM) XP_006718908.1:n.3045+41_3045+42insATTCATGCTAA
XM_011542840.1:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_011541142.1:n.7089+41_7089+42insATTCATGCTAA
XM_011542841.1:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_011541143.1:n.7089+41_7089+42insATTCATGCTAA
XM_011542842.1:c.6924+41_6924+42insATTCATGCTAA (ATM) XP_011541144.1:n.6924+41_6924+42insATTCATGCTAA
XM_011542843.1:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_011541145.1:n.7089+41_7089+42insATTCATGCTAA
XM_011542844.1:c.6045+41_6045+42insATTCATGCTAA (ATM) XP_011541146.1:n.6045+41_6045+42insATTCATGCTAA
XM_011542845.1:c.5781+41_5781+42insATTCATGCTAA (ATM) XP_011541147.1:n.5781+41_5781+42insATTCATGCTAA
XM_011542847.1:c.2160+41_2160+42insATTCATGCTAA (ATM) XP_011541149.1:n.2160+41_2160+42insATTCATGCTAA
NM_001330368.1:c.641-18729_641-18728insTTAGCATGAAT (C11orf65) NP_001317297.1:n.641-18729_641-18728insTTAGCATGAAT
NM_001351110.1:c.*38+7420_*38+7421insTTAGCATGAAT (C11orf65) NP_001338039.1:n.*38+7420_*38+7421insTTAGCATGAAT
NM_001351834.1:c.7089+41_7089+42insATTCATGCTAA (ATM) NP_001338763.1:n.7089+41_7089+42insATTCATGCTAA
XM_005271562.5:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_005271619.2:n.7089+41_7089+42insATTCATGCTAA
XM_006718843.4:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_006718906.1:n.7089+41_7089+42insATTCATGCTAA
XM_006718845.2:c.3045+41_3045+42insATTCATGCTAA (ATM) XP_006718908.1:n.3045+41_3045+42insATTCATGCTAA
XM_011542840.3:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_011541142.1:n.7089+41_7089+42insATTCATGCTAA
XM_011542842.3:c.6924+41_6924+42insATTCATGCTAA (ATM) XP_011541144.1:n.6924+41_6924+42insATTCATGCTAA
XM_011542843.2:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_011541145.1:n.7089+41_7089+42insATTCATGCTAA
XM_011542844.3:c.6045+41_6045+42insATTCATGCTAA (ATM) XP_011541146.1:n.6045+41_6045+42insATTCATGCTAA
XM_011542845.2:c.5781+41_5781+42insATTCATGCTAA (ATM) XP_011541147.1:n.5781+41_5781+42insATTCATGCTAA
XM_017017789.2:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_016873278.1:n.7089+41_7089+42insATTCATGCTAA
XM_017017790.2:c.7089+41_7089+42insATTCATGCTAA (ATM) XP_016873279.1:n.7089+41_7089+42insATTCATGCTAA
NM_001330368.2:c.641-18729_641-18728insTTAGCATGAAT (C11orf65) NP_001317297.1:n.641-18729_641-18728insTTAGCATGAAT
NM_001351110.2:c.*38+7420_*38+7421insTTAGCATGAAT (C11orf65) NP_001338039.1:n.*38+7420_*38+7421insTTAGCATGAAT
NM_001351834.2:c.7089+41_7089+42insATTCATGCTAA (ATM) NP_001338763.1:n.7089+41_7089+42insATTCATGCTAA
NM_000051.4:c.7089+41_7089+42insATTCATGCTAA (ATM) MANE Select NP_000042.3:n.7089+41_7089+42insATTCATGCTAA