Canonical Allele Identifier: CA1998772615
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108268608_108268609delinsTG , CM000673.2:g.108268608_108268609delinsTG GRCh38
NC_000011.9:g.108139335_108139336delinsTG , CM000673.1:g.108139335_108139336delinsTG GRCh37
NC_000011.8:g.107644545_107644546delinsTG NCBI36
NG_009830.1:g.50777_50778delinsTG , LRG_135:g.50777_50778delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2837_2838delinsTG ENSP00000388058.2:p.Met946=
ENST00000713593.1:c.*2308_*2309delinsTG ENSP00000518889.1:n.*2308_*2309delinsTG
ENST00000278616.9:c.2837_2838delinsTG ENSP00000278616.4:p.Met946=
ENST00000682516.1:n.2772+1266_2772+1267delinsTG
ENST00000683174.1:n.2987_2988delinsTG
ENST00000684037.1:c.*1573+1266_*1573+1267delinsTG ENSP00000508245.1:n.*1573+1266_*1573+1267delinsTG
ENST00000527805.6:c.2837_2838delinsTG ENSP00000435747.2:p.Met946=
ENST00000675595.1:c.2672_2673delinsTG ENSP00000502563.1:p.Met891=
ENST00000675843.1:c.2837_2838delinsTG MANE Select ENSP00000501606.1:p.Met946=
ENST00000278616.8:c.2837_2838delinsTG ENSP00000278616.4:p.Met946=
ENST00000419286.2:n.199_200delinsTG
ENST00000452508.6:c.2837_2838delinsTG ENSP00000388058.2:p.Met946=
ENST00000527805.5:c.2837_2838delinsTG ENSP00000435747.1:p.Met946=
NM_000051.3:c.2837_2838delinsTG , LRG_135t1:c.2837_2838delinsTG NP_000042.3:p.Met946=
XM_005271561.3:c.2837_2838delinsTG XP_005271618.2:p.Met946=
XM_005271562.3:c.2837_2838delinsTG XP_005271619.2:p.Met946=
XM_006718843.2:c.2837_2838delinsTG XP_006718906.1:p.Met946=
XM_011542840.1:c.2837_2838delinsTG XP_011541142.1:p.Met946=
XM_011542841.1:c.2837_2838delinsTG XP_011541143.1:p.Met946=
XM_011542842.1:c.2672_2673delinsTG XP_011541144.1:p.Met891=
XM_011542843.1:c.2837_2838delinsTG XP_011541145.1:p.Met946=
XM_011542844.1:c.1793_1794delinsTG XP_011541146.1:p.Met598=
XM_011542845.1:c.1529_1530delinsTG XP_011541147.1:p.Met510=
XM_011542846.1:c.2837_2838delinsTG XP_011541148.1:p.Met946=
NM_001351834.1:c.2837_2838delinsTG NP_001338763.1:p.Met946=
XM_005271562.5:c.2837_2838delinsTG XP_005271619.2:p.Met946=
XM_006718843.4:c.2837_2838delinsTG XP_006718906.1:p.Met946=
XM_011542840.3:c.2837_2838delinsTG XP_011541142.1:p.Met946=
XM_011542842.3:c.2672_2673delinsTG XP_011541144.1:p.Met891=
XM_011542843.2:c.2837_2838delinsTG XP_011541145.1:p.Met946=
XM_011542844.3:c.1793_1794delinsTG XP_011541146.1:p.Met598=
XM_011542845.2:c.1529_1530delinsTG XP_011541147.1:p.Met510=
XM_017017789.2:c.2837_2838delinsTG XP_016873278.1:p.Met946=
XM_017017790.2:c.2837_2838delinsTG XP_016873279.1:p.Met946=
XM_017017791.1:c.2837_2838delinsTG XP_016873280.1:p.Met946=
XM_017017792.2:c.2837_2838delinsTG XP_016873281.1:p.Met946=
XR_002957150.1:n.3570_3571delinsTG
NM_001351834.2:c.2837_2838delinsTG NP_001338763.1:p.Met946=
NM_000051.4:c.2837_2838delinsTG MANE Select NP_000042.3:p.Met946=