Canonical Allele Identifier: CA286887
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127405
dbSNP Id: rs587779846
COSMIC: COSM21933

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108301760del , CM000673.2:g.108301760del GRCh38
NC_000011.9:g.108172487del , CM000673.1:g.108172487del GRCh37
NC_000011.8:g.107677697del NCBI36
NG_009830.1:g.83929del , LRG_135:g.83929del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5290del ENSP00000388058.2:p.Leu1764TyrfsTer12
ENST00000713593.1:c.*4761del ENSP00000518889.1:n.*4761del
ENST00000278616.9:c.5290del ENSP00000278616.4:p.Leu1764TyrfsTer12
ENST00000683174.1:n.6774del
ENST00000683524.1:n.514del
ENST00000684152.1:n.1004del
ENST00000527805.6:c.*354del ENSP00000435747.2:n.*354del
ENST00000675595.1:c.*354del ENSP00000502563.1:n.*354del
ENST00000675843.1:c.5290del MANE Select ENSP00000501606.1:p.Leu1764TyrfsTer12
ENST00000278616.8:c.5290del ENSP00000278616.4:p.Leu1764TyrfsTer12
ENST00000452508.6:c.5290del ENSP00000388058.2:p.Leu1764TyrfsTer12
ENST00000524792.5:n.1505del
ENST00000533690.5:n.694del
ENST00000534625.1:n.519del
NM_000051.3:c.5290del , LRG_135t1:c.5290del NP_000042.3:p.Leu1764TyrfsTer12
XM_005271561.3:c.5290del XP_005271618.2:p.Leu1764TyrfsTer12
XM_005271562.3:c.5290del XP_005271619.2:p.Leu1764TyrfsTer12
XM_006718843.2:c.5290del XP_006718906.1:p.Leu1764TyrfsTer12
XM_006718845.1:c.1246del XP_006718908.1:p.Leu416TyrfsTer12
XM_011542840.1:c.5290del XP_011541142.1:p.Leu1764TyrfsTer12
XM_011542841.1:c.5290del XP_011541143.1:p.Leu1764TyrfsTer12
XM_011542842.1:c.5125del XP_011541144.1:p.Leu1709TyrfsTer12
XM_011542843.1:c.5290del XP_011541145.1:p.Leu1764TyrfsTer12
XM_011542844.1:c.4246del XP_011541146.1:p.Leu1416TyrfsTer12
XM_011542845.1:c.3982del XP_011541147.1:p.Leu1328TyrfsTer12
XM_011542846.1:c.5290del XP_011541148.1:p.Leu1764TyrfsTer?
XM_011542847.1:c.361del XP_011541149.1:p.Leu121TyrfsTer12
NM_001351834.1:c.5290del NP_001338763.1:p.Leu1764TyrfsTer12
XM_005271562.5:c.5290del XP_005271619.2:p.Leu1764TyrfsTer12
XM_006718843.4:c.5290del XP_006718906.1:p.Leu1764TyrfsTer12
XM_006718845.2:c.1246del XP_006718908.1:p.Leu416TyrfsTer12
XM_011542840.3:c.5290del XP_011541142.1:p.Leu1764TyrfsTer12
XM_011542842.3:c.5125del XP_011541144.1:p.Leu1709TyrfsTer12
XM_011542843.2:c.5290del XP_011541145.1:p.Leu1764TyrfsTer12
XM_011542844.3:c.4246del XP_011541146.1:p.Leu1416TyrfsTer12
XM_011542845.2:c.3982del XP_011541147.1:p.Leu1328TyrfsTer12
XM_017017789.2:c.5290del XP_016873278.1:p.Leu1764TyrfsTer12
XM_017017790.2:c.5290del XP_016873279.1:p.Leu1764TyrfsTer12
XM_017017791.1:c.5290del XP_016873280.1:p.Leu1764TyrfsTer12
XM_017017792.2:c.5290del XP_016873281.1:p.Leu1764TyrfsTer15
XR_002957150.1:n.5890del
NM_001351834.2:c.5290del NP_001338763.1:p.Leu1764TyrfsTer12
NM_000051.4:c.5290del MANE Select NP_000042.3:p.Leu1764TyrfsTer12