Canonical Allele Identifier: CA1998801125
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108304568_108304569delinsCT , CM000673.2:g.108304568_108304569delinsCT GRCh38
NC_000011.9:g.108175295_108175296delinsCT , CM000673.1:g.108175295_108175296delinsCT GRCh37
NC_000011.8:g.107680505_107680506delinsCT NCBI36
NG_009830.1:g.86737_86738delinsCT , LRG_135:g.86737_86738delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5497-107_5497-106delinsCT ENSP00000388058.2:n.5497-107_5497-106delinsCT
ENST00000713593.1:c.*4968-107_*4968-106delinsCT ENSP00000518889.1:n.*4968-107_*4968-106delinsCT
ENST00000278616.9:c.5497-107_5497-106delinsCT ENSP00000278616.4:n.5497-107_5497-106delinsCT
ENST00000683174.1:n.6981-107_6981-106delinsCT
ENST00000683524.1:n.721-107_721-106delinsCT
ENST00000684152.1:n.1211-107_1211-106delinsCT
ENST00000527805.6:c.*561-107_*561-106delinsCT ENSP00000435747.2:n.*561-107_*561-106delinsCT
ENST00000675595.1:c.*561-107_*561-106delinsCT ENSP00000502563.1:n.*561-107_*561-106delinsCT
ENST00000675843.1:c.5497-107_5497-106delinsCT MANE Select ENSP00000501606.1:n.5497-107_5497-106delinsCT
ENST00000278616.8:c.5497-107_5497-106delinsCT ENSP00000278616.4:n.5497-107_5497-106delinsCT
ENST00000452508.6:c.5497-107_5497-106delinsCT ENSP00000388058.2:n.5497-107_5497-106delinsCT
ENST00000524792.5:n.1712-107_1712-106delinsCT
ENST00000529588.5:c.9-107_9-106delinsCT
ENST00000533690.5:n.901-107_901-106delinsCT
NM_000051.3:c.5497-107_5497-106delinsCT , LRG_135t1:c.5497-107_5497-106delinsCT NP_000042.3:n.5497-107_5497-106delinsCT
XM_005271561.3:c.5497-107_5497-106delinsCT XP_005271618.2:n.5497-107_5497-106delinsCT
XM_005271562.3:c.5497-107_5497-106delinsCT XP_005271619.2:n.5497-107_5497-106delinsCT
XM_006718843.2:c.5497-107_5497-106delinsCT XP_006718906.1:n.5497-107_5497-106delinsCT
XM_006718845.1:c.1453-107_1453-106delinsCT XP_006718908.1:n.1453-107_1453-106delinsCT
XM_011542840.1:c.5497-107_5497-106delinsCT XP_011541142.1:n.5497-107_5497-106delinsCT
XM_011542841.1:c.5497-107_5497-106delinsCT XP_011541143.1:n.5497-107_5497-106delinsCT
XM_011542842.1:c.5332-107_5332-106delinsCT XP_011541144.1:n.5332-107_5332-106delinsCT
XM_011542843.1:c.5497-107_5497-106delinsCT XP_011541145.1:n.5497-107_5497-106delinsCT
XM_011542844.1:c.4453-107_4453-106delinsCT XP_011541146.1:n.4453-107_4453-106delinsCT
XM_011542845.1:c.4189-107_4189-106delinsCT XP_011541147.1:n.4189-107_4189-106delinsCT
XM_011542847.1:c.568-107_568-106delinsCT XP_011541149.1:n.568-107_568-106delinsCT
NM_001351834.1:c.5497-107_5497-106delinsCT NP_001338763.1:n.5497-107_5497-106delinsCT
XM_005271562.5:c.5497-107_5497-106delinsCT XP_005271619.2:n.5497-107_5497-106delinsCT
XM_006718843.4:c.5497-107_5497-106delinsCT XP_006718906.1:n.5497-107_5497-106delinsCT
XM_006718845.2:c.1453-107_1453-106delinsCT XP_006718908.1:n.1453-107_1453-106delinsCT
XM_011542840.3:c.5497-107_5497-106delinsCT XP_011541142.1:n.5497-107_5497-106delinsCT
XM_011542842.3:c.5332-107_5332-106delinsCT XP_011541144.1:n.5332-107_5332-106delinsCT
XM_011542843.2:c.5497-107_5497-106delinsCT XP_011541145.1:n.5497-107_5497-106delinsCT
XM_011542844.3:c.4453-107_4453-106delinsCT XP_011541146.1:n.4453-107_4453-106delinsCT
XM_011542845.2:c.4189-107_4189-106delinsCT XP_011541147.1:n.4189-107_4189-106delinsCT
XM_017017789.2:c.5497-107_5497-106delinsCT XP_016873278.1:n.5497-107_5497-106delinsCT
XM_017017790.2:c.5497-107_5497-106delinsCT XP_016873279.1:n.5497-107_5497-106delinsCT
XM_017017791.1:c.5497-107_5497-106delinsCT XP_016873280.1:n.5497-107_5497-106delinsCT
XR_002957150.1:n.6097-107_6097-106delinsCT
NM_001351834.2:c.5497-107_5497-106delinsCT NP_001338763.1:n.5497-107_5497-106delinsCT
NM_000051.4:c.5497-107_5497-106delinsCT MANE Select NP_000042.3:n.5497-107_5497-106delinsCT