Canonical Allele Identifier: CA1998803636
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108307882_108307884delinsATT , CM000673.2:g.108307882_108307884delinsATT GRCh38
NC_000011.9:g.108178609_108178611delinsATT , CM000673.1:g.108178609_108178611delinsATT GRCh37
NC_000011.8:g.107683819_107683821delinsATT NCBI36
NG_009830.1:g.90051_90053delinsATT , LRG_135:g.90051_90053delinsATT
NG_054724.1:g.166949_166951delinsAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5675-15_5675-13delinsATT ENSP00000388058.2:n.5675-15_5675-13delinsATT
ENST00000713593.1:c.*5146-15_*5146-13delinsATT ENSP00000518889.1:n.*5146-15_*5146-13delinsATT
ENST00000278616.9:c.5675-15_5675-13delinsATT ENSP00000278616.4:n.5675-15_5675-13delinsATT
ENST00000525056.2:n.79_81delinsATT
ENST00000682286.1:n.432-15_432-13delinsATT
ENST00000682302.1:n.78_80delinsATT
ENST00000683174.1:n.7159-15_7159-13delinsATT
ENST00000683524.1:n.899-15_899-13delinsATT
ENST00000684152.1:n.1389-15_1389-13delinsATT
ENST00000527805.6:c.*739-15_*739-13delinsATT ENSP00000435747.2:n.*739-15_*739-13delinsATT
ENST00000675595.1:c.*739-15_*739-13delinsATT ENSP00000502563.1:n.*739-15_*739-13delinsATT
ENST00000675843.1:c.5675-15_5675-13delinsATT MANE Select ENSP00000501606.1:n.5675-15_5675-13delinsATT
ENST00000278616.8:c.5675-15_5675-13delinsATT ENSP00000278616.4:n.5675-15_5675-13delinsATT
ENST00000452508.6:c.5675-15_5675-13delinsATT ENSP00000388058.2:n.5675-15_5675-13delinsATT
ENST00000524792.5:n.1890-15_1890-13delinsATT
ENST00000529588.5:c.187-2278_187-2276delinsATT
ENST00000533690.5:n.1079-15_1079-13delinsATT
NM_000051.3:c.5675-15_5675-13delinsATT , LRG_135t1:c.5675-15_5675-13delinsATT NP_000042.3:n.5675-15_5675-13delinsATT
XM_005271561.3:c.5675-15_5675-13delinsATT XP_005271618.2:n.5675-15_5675-13delinsATT
XM_005271562.3:c.5675-15_5675-13delinsATT XP_005271619.2:n.5675-15_5675-13delinsATT
XM_006718843.2:c.5675-15_5675-13delinsATT XP_006718906.1:n.5675-15_5675-13delinsATT
XM_006718845.1:c.1631-15_1631-13delinsATT XP_006718908.1:n.1631-15_1631-13delinsATT
XM_011542840.1:c.5675-15_5675-13delinsATT XP_011541142.1:n.5675-15_5675-13delinsATT
XM_011542841.1:c.5675-15_5675-13delinsATT XP_011541143.1:n.5675-15_5675-13delinsATT
XM_011542842.1:c.5510-15_5510-13delinsATT XP_011541144.1:n.5510-15_5510-13delinsATT
XM_011542843.1:c.5675-15_5675-13delinsATT XP_011541145.1:n.5675-15_5675-13delinsATT
XM_011542844.1:c.4631-15_4631-13delinsATT XP_011541146.1:n.4631-15_4631-13delinsATT
XM_011542845.1:c.4367-15_4367-13delinsATT XP_011541147.1:n.4367-15_4367-13delinsATT
XM_011542847.1:c.746-15_746-13delinsATT XP_011541149.1:n.746-15_746-13delinsATT
NM_001351834.1:c.5675-15_5675-13delinsATT NP_001338763.1:n.5675-15_5675-13delinsATT
XM_005271562.5:c.5675-15_5675-13delinsATT XP_005271619.2:n.5675-15_5675-13delinsATT
XM_006718843.4:c.5675-15_5675-13delinsATT XP_006718906.1:n.5675-15_5675-13delinsATT
XM_006718845.2:c.1631-15_1631-13delinsATT XP_006718908.1:n.1631-15_1631-13delinsATT
XM_011542840.3:c.5675-15_5675-13delinsATT XP_011541142.1:n.5675-15_5675-13delinsATT
XM_011542842.3:c.5510-15_5510-13delinsATT XP_011541144.1:n.5510-15_5510-13delinsATT
XM_011542843.2:c.5675-15_5675-13delinsATT XP_011541145.1:n.5675-15_5675-13delinsATT
XM_011542844.3:c.4631-15_4631-13delinsATT XP_011541146.1:n.4631-15_4631-13delinsATT
XM_011542845.2:c.4367-15_4367-13delinsATT XP_011541147.1:n.4367-15_4367-13delinsATT
XM_017017789.2:c.5675-15_5675-13delinsATT XP_016873278.1:n.5675-15_5675-13delinsATT
XM_017017790.2:c.5675-15_5675-13delinsATT XP_016873279.1:n.5675-15_5675-13delinsATT
XM_017017791.1:c.5675-15_5675-13delinsATT XP_016873280.1:n.5675-15_5675-13delinsATT
XR_002957150.1:n.6275-15_6275-13delinsATT
NM_001351834.2:c.5675-15_5675-13delinsATT NP_001338763.1:n.5675-15_5675-13delinsATT
NM_000051.4:c.5675-15_5675-13delinsATT MANE Select NP_000042.3:n.5675-15_5675-13delinsATT