Canonical Allele Identifier: CA671413672
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 654584
dbSNP Id: rs1214541502

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302885_108302888del , CM000673.2:g.108302885_108302888del GRCh38
NC_000011.9:g.108173612_108173615del , CM000673.1:g.108173612_108173615del GRCh37
NC_000011.8:g.107678822_107678825del NCBI36
NG_009830.1:g.85054_85057del , LRG_135:g.85054_85057del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5352_5355del ENSP00000388058.2:p.Pro1785LeufsTer7
ENST00000713593.1:c.*4823_*4826del ENSP00000518889.1:n.*4823_*4826del
ENST00000278616.9:c.5352_5355del ENSP00000278616.4:p.Pro1785LeufsTer7
ENST00000683174.1:n.6836_6839del
ENST00000683524.1:n.576_579del
ENST00000684152.1:n.1066_1069del
ENST00000527805.6:c.*416_*419del ENSP00000435747.2:n.*416_*419del
ENST00000675595.1:c.*416_*419del ENSP00000502563.1:n.*416_*419del
ENST00000675843.1:c.5352_5355del MANE Select ENSP00000501606.1:p.Pro1785LeufsTer7
ENST00000278616.8:c.5352_5355del ENSP00000278616.4:p.Pro1785LeufsTer7
ENST00000452508.6:c.5352_5355del ENSP00000388058.2:p.Pro1785LeufsTer7
ENST00000524792.5:n.1567_1570del
ENST00000533690.5:n.756_759del
ENST00000534625.1:n.581_584del
NM_000051.3:c.5352_5355del , LRG_135t1:c.5352_5355del NP_000042.3:p.Pro1785LeufsTer7
XM_005271561.3:c.5352_5355del XP_005271618.2:p.Pro1785LeufsTer7
XM_005271562.3:c.5352_5355del XP_005271619.2:p.Pro1785LeufsTer7
XM_006718843.2:c.5352_5355del XP_006718906.1:p.Pro1785LeufsTer7
XM_006718845.1:c.1308_1311del XP_006718908.1:p.Pro437LeufsTer7
XM_011542840.1:c.5352_5355del XP_011541142.1:p.Pro1785LeufsTer7
XM_011542841.1:c.5352_5355del XP_011541143.1:p.Pro1785LeufsTer7
XM_011542842.1:c.5187_5190del XP_011541144.1:p.Pro1730LeufsTer7
XM_011542843.1:c.5352_5355del XP_011541145.1:p.Pro1785LeufsTer7
XM_011542844.1:c.4308_4311del XP_011541146.1:p.Pro1437LeufsTer7
XM_011542845.1:c.4044_4047del XP_011541147.1:p.Pro1349LeufsTer7
XM_011542846.1:c.*10_*13del XP_011541148.1:n.*10_*13del
XM_011542847.1:c.423_426del XP_011541149.1:p.Pro142LeufsTer7
NM_001351834.1:c.5352_5355del NP_001338763.1:p.Pro1785LeufsTer7
XM_005271562.5:c.5352_5355del XP_005271619.2:p.Pro1785LeufsTer7
XM_006718843.4:c.5352_5355del XP_006718906.1:p.Pro1785LeufsTer7
XM_006718845.2:c.1308_1311del XP_006718908.1:p.Pro437LeufsTer7
XM_011542840.3:c.5352_5355del XP_011541142.1:p.Pro1785LeufsTer7
XM_011542842.3:c.5187_5190del XP_011541144.1:p.Pro1730LeufsTer7
XM_011542843.2:c.5352_5355del XP_011541145.1:p.Pro1785LeufsTer7
XM_011542844.3:c.4308_4311del XP_011541146.1:p.Pro1437LeufsTer7
XM_011542845.2:c.4044_4047del XP_011541147.1:p.Pro1349LeufsTer7
XM_017017789.2:c.5352_5355del XP_016873278.1:p.Pro1785LeufsTer7
XM_017017790.2:c.5352_5355del XP_016873279.1:p.Pro1785LeufsTer7
XM_017017791.1:c.5352_5355del XP_016873280.1:p.Pro1785LeufsTer7
XM_017017792.2:c.*33_*36del XP_016873281.1:n.*33_*36del
XR_002957150.1:n.5952_5955del
NM_001351834.2:c.5352_5355del NP_001338763.1:p.Pro1785LeufsTer7
NM_000051.4:c.5352_5355del MANE Select NP_000042.3:p.Pro1785LeufsTer7