Canonical Allele Identifier: CA1998803610
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108307822_108307824delinsGAC , CM000673.2:g.108307822_108307824delinsGAC GRCh38
NC_000011.9:g.108178549_108178551delinsGAC , CM000673.1:g.108178549_108178551delinsGAC GRCh37
NC_000011.8:g.107683759_107683761delinsGAC NCBI36
NG_009830.1:g.89991_89993delinsGAC , LRG_135:g.89991_89993delinsGAC
NG_054724.1:g.167009_167011delinsGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5675-75_5675-73delinsGAC ENSP00000388058.2:n.5675-75_5675-73delinsGAC
ENST00000713593.1:c.*5146-75_*5146-73delinsGAC ENSP00000518889.1:n.*5146-75_*5146-73delinsGAC
ENST00000278616.9:c.5675-75_5675-73delinsGAC ENSP00000278616.4:n.5675-75_5675-73delinsGAC
ENST00000525056.2:n.19_21delinsGAC
ENST00000682286.1:n.432-75_432-73delinsGAC
ENST00000682302.1:n.18_20delinsGAC
ENST00000683174.1:n.7159-75_7159-73delinsGAC
ENST00000683524.1:n.899-75_899-73delinsGAC
ENST00000684152.1:n.1389-75_1389-73delinsGAC
ENST00000527805.6:c.*739-75_*739-73delinsGAC ENSP00000435747.2:n.*739-75_*739-73delinsGAC
ENST00000675595.1:c.*739-75_*739-73delinsGAC ENSP00000502563.1:n.*739-75_*739-73delinsGAC
ENST00000675843.1:c.5675-75_5675-73delinsGAC MANE Select ENSP00000501606.1:n.5675-75_5675-73delinsGAC
ENST00000278616.8:c.5675-75_5675-73delinsGAC ENSP00000278616.4:n.5675-75_5675-73delinsGAC
ENST00000452508.6:c.5675-75_5675-73delinsGAC ENSP00000388058.2:n.5675-75_5675-73delinsGAC
ENST00000524792.5:n.1890-75_1890-73delinsGAC
ENST00000529588.5:c.187-2338_187-2336delinsGAC
ENST00000533690.5:n.1079-75_1079-73delinsGAC
NM_000051.3:c.5675-75_5675-73delinsGAC , LRG_135t1:c.5675-75_5675-73delinsGAC NP_000042.3:n.5675-75_5675-73delinsGAC
XM_005271561.3:c.5675-75_5675-73delinsGAC XP_005271618.2:n.5675-75_5675-73delinsGAC
XM_005271562.3:c.5675-75_5675-73delinsGAC XP_005271619.2:n.5675-75_5675-73delinsGAC
XM_006718843.2:c.5675-75_5675-73delinsGAC XP_006718906.1:n.5675-75_5675-73delinsGAC
XM_006718845.1:c.1631-75_1631-73delinsGAC XP_006718908.1:n.1631-75_1631-73delinsGAC
XM_011542840.1:c.5675-75_5675-73delinsGAC XP_011541142.1:n.5675-75_5675-73delinsGAC
XM_011542841.1:c.5675-75_5675-73delinsGAC XP_011541143.1:n.5675-75_5675-73delinsGAC
XM_011542842.1:c.5510-75_5510-73delinsGAC XP_011541144.1:n.5510-75_5510-73delinsGAC
XM_011542843.1:c.5675-75_5675-73delinsGAC XP_011541145.1:n.5675-75_5675-73delinsGAC
XM_011542844.1:c.4631-75_4631-73delinsGAC XP_011541146.1:n.4631-75_4631-73delinsGAC
XM_011542845.1:c.4367-75_4367-73delinsGAC XP_011541147.1:n.4367-75_4367-73delinsGAC
XM_011542847.1:c.746-75_746-73delinsGAC XP_011541149.1:n.746-75_746-73delinsGAC
NM_001351834.1:c.5675-75_5675-73delinsGAC NP_001338763.1:n.5675-75_5675-73delinsGAC
XM_005271562.5:c.5675-75_5675-73delinsGAC XP_005271619.2:n.5675-75_5675-73delinsGAC
XM_006718843.4:c.5675-75_5675-73delinsGAC XP_006718906.1:n.5675-75_5675-73delinsGAC
XM_006718845.2:c.1631-75_1631-73delinsGAC XP_006718908.1:n.1631-75_1631-73delinsGAC
XM_011542840.3:c.5675-75_5675-73delinsGAC XP_011541142.1:n.5675-75_5675-73delinsGAC
XM_011542842.3:c.5510-75_5510-73delinsGAC XP_011541144.1:n.5510-75_5510-73delinsGAC
XM_011542843.2:c.5675-75_5675-73delinsGAC XP_011541145.1:n.5675-75_5675-73delinsGAC
XM_011542844.3:c.4631-75_4631-73delinsGAC XP_011541146.1:n.4631-75_4631-73delinsGAC
XM_011542845.2:c.4367-75_4367-73delinsGAC XP_011541147.1:n.4367-75_4367-73delinsGAC
XM_017017789.2:c.5675-75_5675-73delinsGAC XP_016873278.1:n.5675-75_5675-73delinsGAC
XM_017017790.2:c.5675-75_5675-73delinsGAC XP_016873279.1:n.5675-75_5675-73delinsGAC
XM_017017791.1:c.5675-75_5675-73delinsGAC XP_016873280.1:n.5675-75_5675-73delinsGAC
XR_002957150.1:n.6275-75_6275-73delinsGAC
NM_001351834.2:c.5675-75_5675-73delinsGAC NP_001338763.1:n.5675-75_5675-73delinsGAC
NM_000051.4:c.5675-75_5675-73delinsGAC MANE Select NP_000042.3:n.5675-75_5675-73delinsGAC