Canonical Allele Identifier: CA1998803441
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108307526_108307531delinsCTATTA , CM000673.2:g.108307526_108307531delinsCTATTA GRCh38
NC_000011.9:g.108178253_108178258delinsCTATTA , CM000673.1:g.108178253_108178258delinsCTATTA GRCh37
NC_000011.8:g.107683463_107683468delinsCTATTA NCBI36
NG_009830.1:g.89695_89700delinsCTATTA , LRG_135:g.89695_89700delinsCTATTA
NG_054724.1:g.167302_167307delinsTAATAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5675-371_5675-366delinsCTATTA ENSP00000388058.2:n.5675-371_5675-366delinsCTATTA
ENST00000713593.1:c.*5146-371_*5146-366delinsCTATTA ENSP00000518889.1:n.*5146-371_*5146-366delinsCTATTA
ENST00000278616.9:c.5675-371_5675-366delinsCTATTA ENSP00000278616.4:n.5675-371_5675-366delinsCTATTA
ENST00000682286.1:n.431+44_431+49delinsCTATTA
ENST00000683174.1:n.7159-371_7159-366delinsCTATTA
ENST00000683524.1:n.899-371_899-366delinsCTATTA
ENST00000684152.1:n.1389-371_1389-366delinsCTATTA
ENST00000527805.6:c.*739-371_*739-366delinsCTATTA ENSP00000435747.2:n.*739-371_*739-366delinsCTATTA
ENST00000675595.1:c.*739-371_*739-366delinsCTATTA ENSP00000502563.1:n.*739-371_*739-366delinsCTATTA
ENST00000675843.1:c.5675-371_5675-366delinsCTATTA MANE Select ENSP00000501606.1:n.5675-371_5675-366delinsCTATTA
ENST00000278616.8:c.5675-371_5675-366delinsCTATTA ENSP00000278616.4:n.5675-371_5675-366delinsCTATTA
ENST00000452508.6:c.5675-371_5675-366delinsCTATTA ENSP00000388058.2:n.5675-371_5675-366delinsCTATTA
ENST00000524792.5:n.1890-371_1890-366delinsCTATTA
ENST00000529588.5:c.187-2634_187-2629delinsCTATTA
ENST00000533690.5:n.1079-371_1079-366delinsCTATTA
NM_000051.3:c.5675-371_5675-366delinsCTATTA , LRG_135t1:c.5675-371_5675-366delinsCTATTA NP_000042.3:n.5675-371_5675-366delinsCTATTA
XM_005271561.3:c.5675-371_5675-366delinsCTATTA XP_005271618.2:n.5675-371_5675-366delinsCTATTA
XM_005271562.3:c.5675-371_5675-366delinsCTATTA XP_005271619.2:n.5675-371_5675-366delinsCTATTA
XM_006718843.2:c.5675-371_5675-366delinsCTATTA XP_006718906.1:n.5675-371_5675-366delinsCTATTA
XM_006718845.1:c.1631-371_1631-366delinsCTATTA XP_006718908.1:n.1631-371_1631-366delinsCTATTA
XM_011542840.1:c.5675-371_5675-366delinsCTATTA XP_011541142.1:n.5675-371_5675-366delinsCTATTA
XM_011542841.1:c.5675-371_5675-366delinsCTATTA XP_011541143.1:n.5675-371_5675-366delinsCTATTA
XM_011542842.1:c.5510-371_5510-366delinsCTATTA XP_011541144.1:n.5510-371_5510-366delinsCTATTA
XM_011542843.1:c.5675-371_5675-366delinsCTATTA XP_011541145.1:n.5675-371_5675-366delinsCTATTA
XM_011542844.1:c.4631-371_4631-366delinsCTATTA XP_011541146.1:n.4631-371_4631-366delinsCTATTA
XM_011542845.1:c.4367-371_4367-366delinsCTATTA XP_011541147.1:n.4367-371_4367-366delinsCTATTA
XM_011542847.1:c.746-371_746-366delinsCTATTA XP_011541149.1:n.746-371_746-366delinsCTATTA
NM_001351834.1:c.5675-371_5675-366delinsCTATTA NP_001338763.1:n.5675-371_5675-366delinsCTATTA
XM_005271562.5:c.5675-371_5675-366delinsCTATTA XP_005271619.2:n.5675-371_5675-366delinsCTATTA
XM_006718843.4:c.5675-371_5675-366delinsCTATTA XP_006718906.1:n.5675-371_5675-366delinsCTATTA
XM_006718845.2:c.1631-371_1631-366delinsCTATTA XP_006718908.1:n.1631-371_1631-366delinsCTATTA
XM_011542840.3:c.5675-371_5675-366delinsCTATTA XP_011541142.1:n.5675-371_5675-366delinsCTATTA
XM_011542842.3:c.5510-371_5510-366delinsCTATTA XP_011541144.1:n.5510-371_5510-366delinsCTATTA
XM_011542843.2:c.5675-371_5675-366delinsCTATTA XP_011541145.1:n.5675-371_5675-366delinsCTATTA
XM_011542844.3:c.4631-371_4631-366delinsCTATTA XP_011541146.1:n.4631-371_4631-366delinsCTATTA
XM_011542845.2:c.4367-371_4367-366delinsCTATTA XP_011541147.1:n.4367-371_4367-366delinsCTATTA
XM_017017789.2:c.5675-371_5675-366delinsCTATTA XP_016873278.1:n.5675-371_5675-366delinsCTATTA
XM_017017790.2:c.5675-371_5675-366delinsCTATTA XP_016873279.1:n.5675-371_5675-366delinsCTATTA
XM_017017791.1:c.5675-371_5675-366delinsCTATTA XP_016873280.1:n.5675-371_5675-366delinsCTATTA
XR_002957150.1:n.6275-371_6275-366delinsCTATTA
NM_001351834.2:c.5675-371_5675-366delinsCTATTA NP_001338763.1:n.5675-371_5675-366delinsCTATTA
NM_000051.4:c.5675-371_5675-366delinsCTATTA MANE Select NP_000042.3:n.5675-371_5675-366delinsCTATTA