Canonical Allele Identifier: CA1998770711
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108250679_108250680delinsTA , CM000673.2:g.108250679_108250680delinsTA GRCh38
NC_000011.9:g.108121406_108121407delinsTA , CM000673.1:g.108121406_108121407delinsTA GRCh37
NC_000011.8:g.107626616_107626617delinsTA NCBI36
NG_009830.1:g.32848_32849delinsTA , LRG_135:g.32848_32849delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.1236-22_1236-21delinsTA ENSP00000388058.2:n.1236-22_1236-21delinsTA
ENST00000713593.1:c.*707-22_*707-21delinsTA ENSP00000518889.1:n.*707-22_*707-21delinsTA
ENST00000278616.9:c.1236-22_1236-21delinsTA ENSP00000278616.4:n.1236-22_1236-21delinsTA
ENST00000682516.1:n.1370-22_1370-21delinsTA
ENST00000682956.1:n.1370-22_1370-21delinsTA
ENST00000683174.1:n.1386-22_1386-21delinsTA
ENST00000683605.1:n.731-22_731-21delinsTA
ENST00000684037.1:c.*171-22_*171-21delinsTA ENSP00000508245.1:n.*171-22_*171-21delinsTA
ENST00000684061.1:n.1370-22_1370-21delinsTA
ENST00000684179.1:n.1205-22_1205-21delinsTA
ENST00000527805.6:c.1236-22_1236-21delinsTA ENSP00000435747.2:n.1236-22_1236-21delinsTA
ENST00000675595.1:c.1071-22_1071-21delinsTA ENSP00000502563.1:n.1071-22_1071-21delinsTA
ENST00000675843.1:c.1236-22_1236-21delinsTA MANE Select ENSP00000501606.1:n.1236-22_1236-21delinsTA
ENST00000278616.8:c.1236-22_1236-21delinsTA ENSP00000278616.4:n.1236-22_1236-21delinsTA
ENST00000452508.6:c.1236-22_1236-21delinsTA ENSP00000388058.2:n.1236-22_1236-21delinsTA
ENST00000527805.5:c.1236-22_1236-21delinsTA ENSP00000435747.1:n.1236-22_1236-21delinsTA
NM_000051.3:c.1236-22_1236-21delinsTA , LRG_135t1:c.1236-22_1236-21delinsTA NP_000042.3:n.1236-22_1236-21delinsTA
XM_005271561.3:c.1236-22_1236-21delinsTA XP_005271618.2:n.1236-22_1236-21delinsTA
XM_005271562.3:c.1236-22_1236-21delinsTA XP_005271619.2:n.1236-22_1236-21delinsTA
XM_006718843.2:c.1236-22_1236-21delinsTA XP_006718906.1:n.1236-22_1236-21delinsTA
XM_011542840.1:c.1236-22_1236-21delinsTA XP_011541142.1:n.1236-22_1236-21delinsTA
XM_011542841.1:c.1236-22_1236-21delinsTA XP_011541143.1:n.1236-22_1236-21delinsTA
XM_011542842.1:c.1071-22_1071-21delinsTA XP_011541144.1:n.1071-22_1071-21delinsTA
XM_011542843.1:c.1236-22_1236-21delinsTA XP_011541145.1:n.1236-22_1236-21delinsTA
XM_011542844.1:c.192-22_192-21delinsTA XP_011541146.1:n.192-22_192-21delinsTA
XM_011542845.1:c.-73-22_-73-21delinsTA XP_011541147.1:n.-73-22_-73-21delinsTA
XM_011542846.1:c.1236-22_1236-21delinsTA XP_011541148.1:n.1236-22_1236-21delinsTA
NM_001351834.1:c.1236-22_1236-21delinsTA NP_001338763.1:n.1236-22_1236-21delinsTA
XM_005271562.5:c.1236-22_1236-21delinsTA XP_005271619.2:n.1236-22_1236-21delinsTA
XM_006718843.4:c.1236-22_1236-21delinsTA XP_006718906.1:n.1236-22_1236-21delinsTA
XM_011542840.3:c.1236-22_1236-21delinsTA XP_011541142.1:n.1236-22_1236-21delinsTA
XM_011542842.3:c.1071-22_1071-21delinsTA XP_011541144.1:n.1071-22_1071-21delinsTA
XM_011542843.2:c.1236-22_1236-21delinsTA XP_011541145.1:n.1236-22_1236-21delinsTA
XM_011542844.3:c.192-22_192-21delinsTA XP_011541146.1:n.192-22_192-21delinsTA
XM_011542845.2:c.-73-22_-73-21delinsTA XP_011541147.1:n.-73-22_-73-21delinsTA
XM_017017789.2:c.1236-22_1236-21delinsTA XP_016873278.1:n.1236-22_1236-21delinsTA
XM_017017790.2:c.1236-22_1236-21delinsTA XP_016873279.1:n.1236-22_1236-21delinsTA
XM_017017791.1:c.1236-22_1236-21delinsTA XP_016873280.1:n.1236-22_1236-21delinsTA
XM_017017792.2:c.1236-22_1236-21delinsTA XP_016873281.1:n.1236-22_1236-21delinsTA
XR_002957150.1:n.1969-22_1969-21delinsTA
NM_001351834.2:c.1236-22_1236-21delinsTA NP_001338763.1:n.1236-22_1236-21delinsTA
NM_000051.4:c.1236-22_1236-21delinsTA MANE Select NP_000042.3:n.1236-22_1236-21delinsTA