Canonical Allele Identifier: CA942016400
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108258617_108258618insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.108258617_108258618insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000011.9:g.108129344_108129345insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.108129344_108129345insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000011.8:g.107634554_107634555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_009830.1:g.40786_40787insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_135:g.40786_40787insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000388058.2:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTT...
ENST00000713593.1:c.*1848-369_*1848-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000518889.1:n.*1848-369_*1848-368insTTTTTTTTTTTTTTTTTTT...
ENST00000278616.9:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000278616.4:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682516.1:n.2511-369_2511-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683174.1:n.2527-369_2527-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683605.1:n.1872-369_1872-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000684037.1:c.*1312-369_*1312-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000508245.1:n.*1312-369_*1312-368insTTTTTTTTTTTTTTTTTTT...
ENST00000527805.6:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000435747.2:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTT...
ENST00000675595.1:c.2212-369_2212-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000502563.1:n.2212-369_2212-368insTTTTTTTTTTTTTTTTTTTTT...
ENST00000675843.1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000501606.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTT...
ENST00000278616.8:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000278616.4:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTT...
ENST00000452508.6:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000388058.2:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTT...
ENST00000527805.5:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000435747.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTT...
NM_000051.3:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_135t1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_000042.3:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005271561.3:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005271618.2:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005271562.3:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005271619.2:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006718843.2:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_006718906.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542840.1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541142.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542841.1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541143.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542842.1:c.2212-369_2212-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541144.1:n.2212-369_2212-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542843.1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541145.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542844.1:c.1333-369_1333-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541146.1:n.1333-369_1333-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542845.1:c.1069-369_1069-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541147.1:n.1069-369_1069-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542846.1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541148.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001351834.1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001338763.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005271562.5:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005271619.2:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006718843.4:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_006718906.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542840.3:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541142.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542842.3:c.2212-369_2212-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541144.1:n.2212-369_2212-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542843.2:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541145.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542844.3:c.1333-369_1333-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541146.1:n.1333-369_1333-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542845.2:c.1069-369_1069-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011541147.1:n.1069-369_1069-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017789.2:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016873278.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017790.2:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016873279.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017791.1:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016873280.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017792.2:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016873281.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
XR_002957150.1:n.3110-369_3110-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001351834.2:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001338763.1:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_000051.4:c.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_000042.3:n.2377-369_2377-368insTTTTTTTTTTTTTTTTTTTTTTTTTTT...