Canonical Allele Identifier: CA16619188
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 418723
dbSNP Id: rs1064793390

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108293362del , CM000673.2:g.108293362del GRCh38
NC_000011.9:g.108164089del , CM000673.1:g.108164089del GRCh37
NC_000011.8:g.107669299del NCBI36
NG_009830.1:g.75531del , LRG_135:g.75531del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.4661del ENSP00000388058.2:p.Asn1554ThrfsTer9
ENST00000713593.1:c.*4132del ENSP00000518889.1:n.*4132del
ENST00000278616.9:c.4661del ENSP00000278616.4:p.Asn1554ThrfsTer9
ENST00000683174.1:n.4811del
ENST00000683524.1:n.18del
ENST00000527805.6:c.4611+569del ENSP00000435747.2:n.4611+569del
ENST00000675595.1:c.4496del ENSP00000502563.1:p.Asn1499ThrfsTer9
ENST00000675843.1:c.4661del MANE Select ENSP00000501606.1:p.Asn1554ThrfsTer9
ENST00000278616.8:c.4661del ENSP00000278616.4:p.Asn1554ThrfsTer9
ENST00000452508.6:c.4661del ENSP00000388058.2:p.Asn1554ThrfsTer9
ENST00000524792.5:n.876del
ENST00000531525.2:c.444-1565del ENSP00000434327.2:n.444-1565del
NM_000051.3:c.4661del , LRG_135t1:c.4661del NP_000042.3:p.Asn1554ThrfsTer9
XM_005271561.3:c.4661del XP_005271618.2:p.Asn1554ThrfsTer9
XM_005271562.3:c.4661del XP_005271619.2:p.Asn1554ThrfsTer9
XM_006718843.2:c.4661del XP_006718906.1:p.Asn1554ThrfsTer9
XM_006718845.1:c.617del XP_006718908.1:p.Asn206ThrfsTer9
XM_011542840.1:c.4661del XP_011541142.1:p.Asn1554ThrfsTer9
XM_011542841.1:c.4661del XP_011541143.1:p.Asn1554ThrfsTer9
XM_011542842.1:c.4496del XP_011541144.1:p.Asn1499ThrfsTer9
XM_011542843.1:c.4661del XP_011541145.1:p.Asn1554ThrfsTer9
XM_011542844.1:c.3617del XP_011541146.1:p.Asn1206ThrfsTer9
XM_011542845.1:c.3353del XP_011541147.1:p.Asn1118ThrfsTer9
XM_011542846.1:c.4661del XP_011541148.1:p.Asn1554ThrfsTer9
NM_001351834.1:c.4661del NP_001338763.1:p.Asn1554ThrfsTer9
XM_005271562.5:c.4661del XP_005271619.2:p.Asn1554ThrfsTer9
XM_006718843.4:c.4661del XP_006718906.1:p.Asn1554ThrfsTer9
XM_006718845.2:c.617del XP_006718908.1:p.Asn206ThrfsTer9
XM_011542840.3:c.4661del XP_011541142.1:p.Asn1554ThrfsTer9
XM_011542842.3:c.4496del XP_011541144.1:p.Asn1499ThrfsTer9
XM_011542843.2:c.4661del XP_011541145.1:p.Asn1554ThrfsTer9
XM_011542844.3:c.3617del XP_011541146.1:p.Asn1206ThrfsTer9
XM_011542845.2:c.3353del XP_011541147.1:p.Asn1118ThrfsTer9
XM_017017789.2:c.4661del XP_016873278.1:p.Asn1554ThrfsTer9
XM_017017790.2:c.4661del XP_016873279.1:p.Asn1554ThrfsTer9
XM_017017791.1:c.4661del XP_016873280.1:p.Asn1554ThrfsTer9
XM_017017792.2:c.4661del XP_016873281.1:p.Asn1554ThrfsTer9
XR_002957150.1:n.5394del
NM_001351834.2:c.4661del NP_001338763.1:p.Asn1554ThrfsTer9
NM_000051.4:c.4661del MANE Select NP_000042.3:p.Asn1554ThrfsTer9