Canonical Allele Identifier: CA1998804652
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108309107_108309108delinsTA , CM000673.2:g.108309107_108309108delinsTA GRCh38
NC_000011.9:g.108179834_108179835delinsTA , CM000673.1:g.108179834_108179835delinsTA GRCh37
NC_000011.8:g.107685044_107685045delinsTA NCBI36
NG_009830.1:g.91276_91277delinsTA , LRG_135:g.91276_91277delinsTA
NG_054724.1:g.165725_165726delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5763-1053_5763-1052delinsTA (ATM) ENSP00000388058.2:n.5763-1053_5763-1052delinsTA
ENST00000713593.1:c.*5234-1053_*5234-1052delinsTA (ATM) ENSP00000518889.1:n.*5234-1053_*5234-1052delinsTA
ENST00000278616.9:c.5763-1053_5763-1052delinsTA (ATM) ENSP00000278616.4:n.5763-1053_5763-1052delinsTA
ENST00000525056.2:n.182-1053_182-1052delinsTA (ATM)
ENST00000682286.1:n.520-1053_520-1052delinsTA (ATM)
ENST00000682302.1:n.181-1053_181-1052delinsTA (ATM)
ENST00000683174.1:n.7247-1053_7247-1052delinsTA (ATM)
ENST00000683524.1:n.987-1053_987-1052delinsTA (ATM)
ENST00000684152.1:n.1477-1053_1477-1052delinsTA (ATM)
ENST00000527805.6:c.*827-1053_*827-1052delinsTA (ATM) ENSP00000435747.2:n.*827-1053_*827-1052delinsTA
ENST00000675595.1:c.*827-1053_*827-1052delinsTA (ATM) ENSP00000502563.1:n.*827-1053_*827-1052delinsTA
ENST00000675843.1:c.5763-1053_5763-1052delinsTA (ATM) MANE Select ENSP00000501606.1:n.5763-1053_5763-1052delinsTA
ENST00000278616.8:c.5763-1053_5763-1052delinsTA (ATM) ENSP00000278616.4:n.5763-1053_5763-1052delinsTA
ENST00000452508.6:c.5763-1053_5763-1052delinsTA (ATM) ENSP00000388058.2:n.5763-1053_5763-1052delinsTA
ENST00000524792.5:n.1978-1053_1978-1052delinsTA (ATM)
ENST00000525729.5:c.641-37_641-36delinsTA (C11orf65) ENSP00000433395.1:n.641-37_641-36delinsTA
ENST00000529588.5:c.187-1053_187-1052delinsTA (ATM)
ENST00000532765.1:n.79+1037_79+1038delinsTA (ATM)
ENST00000533690.5:n.1167-1053_1167-1052delinsTA (ATM)
NM_000051.3:c.5763-1053_5763-1052delinsTA , LRG_135t1:c.5763-1053_5763-1052delinsTA (ATM) NP_000042.3:n.5763-1053_5763-1052delinsTA
XM_005271561.3:c.5763-1053_5763-1052delinsTA (ATM) XP_005271618.2:n.5763-1053_5763-1052delinsTA
XM_005271562.3:c.5763-1053_5763-1052delinsTA (ATM) XP_005271619.2:n.5763-1053_5763-1052delinsTA
XM_006718843.2:c.5763-1053_5763-1052delinsTA (ATM) XP_006718906.1:n.5763-1053_5763-1052delinsTA
XM_006718845.1:c.1719-1053_1719-1052delinsTA (ATM) XP_006718908.1:n.1719-1053_1719-1052delinsTA
XM_011542840.1:c.5763-1053_5763-1052delinsTA (ATM) XP_011541142.1:n.5763-1053_5763-1052delinsTA
XM_011542841.1:c.5763-1053_5763-1052delinsTA (ATM) XP_011541143.1:n.5763-1053_5763-1052delinsTA
XM_011542842.1:c.5598-1053_5598-1052delinsTA (ATM) XP_011541144.1:n.5598-1053_5598-1052delinsTA
XM_011542843.1:c.5763-1053_5763-1052delinsTA (ATM) XP_011541145.1:n.5763-1053_5763-1052delinsTA
XM_011542844.1:c.4719-1053_4719-1052delinsTA (ATM) XP_011541146.1:n.4719-1053_4719-1052delinsTA
XM_011542845.1:c.4455-1053_4455-1052delinsTA (ATM) XP_011541147.1:n.4455-1053_4455-1052delinsTA
XM_011542847.1:c.834-1053_834-1052delinsTA (ATM) XP_011541149.1:n.834-1053_834-1052delinsTA
NM_001330368.1:c.641-37_641-36delinsTA (C11orf65) NP_001317297.1:n.641-37_641-36delinsTA
NM_001351110.1:c.*39-37_*39-36delinsTA (C11orf65) NP_001338039.1:n.*39-37_*39-36delinsTA
NM_001351834.1:c.5763-1053_5763-1052delinsTA (ATM) NP_001338763.1:n.5763-1053_5763-1052delinsTA
XM_005271562.5:c.5763-1053_5763-1052delinsTA (ATM) XP_005271619.2:n.5763-1053_5763-1052delinsTA
XM_006718843.4:c.5763-1053_5763-1052delinsTA (ATM) XP_006718906.1:n.5763-1053_5763-1052delinsTA
XM_006718845.2:c.1719-1053_1719-1052delinsTA (ATM) XP_006718908.1:n.1719-1053_1719-1052delinsTA
XM_011542840.3:c.5763-1053_5763-1052delinsTA (ATM) XP_011541142.1:n.5763-1053_5763-1052delinsTA
XM_011542842.3:c.5598-1053_5598-1052delinsTA (ATM) XP_011541144.1:n.5598-1053_5598-1052delinsTA
XM_011542843.2:c.5763-1053_5763-1052delinsTA (ATM) XP_011541145.1:n.5763-1053_5763-1052delinsTA
XM_011542844.3:c.4719-1053_4719-1052delinsTA (ATM) XP_011541146.1:n.4719-1053_4719-1052delinsTA
XM_011542845.2:c.4455-1053_4455-1052delinsTA (ATM) XP_011541147.1:n.4455-1053_4455-1052delinsTA
XM_017017789.2:c.5763-1053_5763-1052delinsTA (ATM) XP_016873278.1:n.5763-1053_5763-1052delinsTA
XM_017017790.2:c.5763-1053_5763-1052delinsTA (ATM) XP_016873279.1:n.5763-1053_5763-1052delinsTA
XM_017017791.1:c.5763-1053_5763-1052delinsTA (ATM) XP_016873280.1:n.5763-1053_5763-1052delinsTA
XR_002957150.1:n.6363-1053_6363-1052delinsTA (ATM)
NM_001330368.2:c.641-37_641-36delinsTA (C11orf65) NP_001317297.1:n.641-37_641-36delinsTA
NM_001351110.2:c.*39-37_*39-36delinsTA (C11orf65) NP_001338039.1:n.*39-37_*39-36delinsTA
NM_001351834.2:c.5763-1053_5763-1052delinsTA (ATM) NP_001338763.1:n.5763-1053_5763-1052delinsTA
NM_000051.4:c.5763-1053_5763-1052delinsTA (ATM) MANE Select NP_000042.3:n.5763-1053_5763-1052delinsTA