Canonical Allele Identifier: CA658656267
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 487445
dbSNP Id: rs587781730

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108307934del , CM000673.2:g.108307934del GRCh38
NC_000011.9:g.108178661del , CM000673.1:g.108178661del GRCh37
NC_000011.8:g.107683871del NCBI36
NG_009830.1:g.90103del , LRG_135:g.90103del
NG_054724.1:g.166904del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5712del ENSP00000388058.2:p.Lys1904AsnfsTer13
ENST00000713593.1:c.*5183del ENSP00000518889.1:n.*5183del
ENST00000278616.9:c.5712del ENSP00000278616.4:p.Lys1904AsnfsTer13
ENST00000525056.2:n.131del
ENST00000682286.1:n.469del
ENST00000682302.1:n.130del
ENST00000683174.1:n.7196del
ENST00000683524.1:n.936del
ENST00000684152.1:n.1426del
ENST00000527805.6:c.*776del ENSP00000435747.2:n.*776del
ENST00000675595.1:c.*776del ENSP00000502563.1:n.*776del
ENST00000675843.1:c.5712del MANE Select ENSP00000501606.1:p.Lys1904AsnfsTer13
ENST00000278616.8:c.5712del ENSP00000278616.4:p.Lys1904AsnfsTer13
ENST00000452508.6:c.5712del ENSP00000388058.2:p.Lys1904AsnfsTer13
ENST00000524792.5:n.1927del
ENST00000529588.5:c.187-2226del
ENST00000533690.5:n.1116del
NM_000051.3:c.5712del , LRG_135t1:c.5712del NP_000042.3:p.Lys1904AsnfsTer13
XM_005271561.3:c.5712del XP_005271618.2:p.Lys1904AsnfsTer13
XM_005271562.3:c.5712del XP_005271619.2:p.Lys1904AsnfsTer13
XM_006718843.2:c.5712del XP_006718906.1:p.Lys1904AsnfsTer13
XM_006718845.1:c.1668del XP_006718908.1:p.Lys556AsnfsTer13
XM_011542840.1:c.5712del XP_011541142.1:p.Lys1904AsnfsTer13
XM_011542841.1:c.5712del XP_011541143.1:p.Lys1904AsnfsTer13
XM_011542842.1:c.5547del XP_011541144.1:p.Lys1849AsnfsTer13
XM_011542843.1:c.5712del XP_011541145.1:p.Lys1904AsnfsTer13
XM_011542844.1:c.4668del XP_011541146.1:p.Lys1556AsnfsTer13
XM_011542845.1:c.4404del XP_011541147.1:p.Lys1468AsnfsTer13
XM_011542847.1:c.783del XP_011541149.1:p.Lys261AsnfsTer13
NM_001351834.1:c.5712del NP_001338763.1:p.Lys1904AsnfsTer13
XM_005271562.5:c.5712del XP_005271619.2:p.Lys1904AsnfsTer13
XM_006718843.4:c.5712del XP_006718906.1:p.Lys1904AsnfsTer13
XM_006718845.2:c.1668del XP_006718908.1:p.Lys556AsnfsTer13
XM_011542840.3:c.5712del XP_011541142.1:p.Lys1904AsnfsTer13
XM_011542842.3:c.5547del XP_011541144.1:p.Lys1849AsnfsTer13
XM_011542843.2:c.5712del XP_011541145.1:p.Lys1904AsnfsTer13
XM_011542844.3:c.4668del XP_011541146.1:p.Lys1556AsnfsTer13
XM_011542845.2:c.4404del XP_011541147.1:p.Lys1468AsnfsTer13
XM_017017789.2:c.5712del XP_016873278.1:p.Lys1904AsnfsTer13
XM_017017790.2:c.5712del XP_016873279.1:p.Lys1904AsnfsTer13
XM_017017791.1:c.5712del XP_016873280.1:p.Lys1904AsnfsTer13
XR_002957150.1:n.6312del
NM_001351834.2:c.5712del NP_001338763.1:p.Lys1904AsnfsTer13
NM_000051.4:c.5712del MANE Select NP_000042.3:p.Lys1904AsnfsTer13