Canonical Allele Identifier: CA2825001774
Community Standard Title: NM_000051.4(ATM):c.1361_1362del (p.Tyr454CysfsTer?)
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108250826_108250827del , CM000673.2:g.108250826_108250827del GRCh38
NC_000011.9:g.108121553_108121554del , CM000673.1:g.108121553_108121554del GRCh37
NC_000011.8:g.107626763_107626764del NCBI36
NG_009830.1:g.32995_32996del , LRG_135:g.32995_32996del

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.1361_1362del MANE Select NP_000042.3:p.Tyr454CysfsTer?
ENST00000675843.1:c.1361_1362del MANE Select ENSP00000501606.1:p.Tyr454CysfsTer?
NM_000051.3:c.1361_1362del , LRG_135t1:c.1361_1362del NP_000042.3:p.Tyr454CysfsTer?
NM_001351834.1:c.1361_1362del NP_001338763.1:p.Tyr454CysfsTer?
NM_001351834.2:c.1361_1362del NP_001338763.1:p.Tyr454CysfsTer?
ENST00000278616.8:c.1361_1362del ENSP00000278616.4:p.Tyr454CysfsTer?
ENST00000278616.9:c.1361_1362del ENSP00000278616.4:p.Tyr454CysfsTer?
ENST00000452508.6:c.1361_1362del ENSP00000388058.2:p.Tyr454CysfsTer?
ENST00000452508.7:c.1361_1362del ENSP00000388058.2:p.Tyr454CysfsTer?
ENST00000527805.5:c.1361_1362del ENSP00000435747.1:p.Tyr454CysfsTer?
ENST00000527805.6:c.1361_1362del ENSP00000435747.2:p.Tyr454CysfsTer?
ENST00000675595.1:c.1196_1197del ENSP00000502563.1:p.Tyr399CysfsTer?
ENST00000682516.1:n.1495_1496del
ENST00000682956.1:n.1495_1496del
ENST00000683174.1:n.1511_1512del
ENST00000683605.1:n.856_857del
ENST00000684037.1:c.*296_*297del ENSP00000508245.1:n.*296_*297del
ENST00000684061.1:n.1495_1496del
ENST00000684179.1:n.1330_1331del
ENST00000713593.1:c.*832_*833del ENSP00000518889.1:n.*832_*833del
XM_005271561.3:c.1361_1362del XP_005271618.2:p.Tyr454CysfsTer?
XM_005271562.3:c.1361_1362del XP_005271619.2:p.Tyr454CysfsTer?
XM_005271562.5:c.1361_1362del XP_005271619.2:p.Tyr454CysfsTer?
XM_006718843.2:c.1361_1362del XP_006718906.1:p.Tyr454CysfsTer?
XM_006718843.4:c.1361_1362del XP_006718906.1:p.Tyr454CysfsTer?
XM_011542840.1:c.1361_1362del XP_011541142.1:p.Tyr454CysfsTer?
XM_011542840.3:c.1361_1362del XP_011541142.1:p.Tyr454CysfsTer?
XM_011542841.1:c.1361_1362del XP_011541143.1:p.Tyr454CysfsTer?
XM_011542842.1:c.1196_1197del XP_011541144.1:p.Tyr399CysfsTer?
XM_011542842.3:c.1196_1197del XP_011541144.1:p.Tyr399CysfsTer?
XM_011542843.1:c.1361_1362del XP_011541145.1:p.Tyr454CysfsTer?
XM_011542843.2:c.1361_1362del XP_011541145.1:p.Tyr454CysfsTer?
XM_011542844.1:c.317_318del XP_011541146.1:p.Tyr106CysfsTer?
XM_011542844.3:c.317_318del XP_011541146.1:p.Tyr106CysfsTer?
XM_011542845.1:c.53_54del XP_011541147.1:p.Tyr18CysfsTer?
XM_011542845.2:c.53_54del XP_011541147.1:p.Tyr18CysfsTer?
XM_011542846.1:c.1361_1362del XP_011541148.1:p.Tyr454CysfsTer?
XM_017017789.2:c.1361_1362del XP_016873278.1:p.Tyr454CysfsTer?
XM_017017790.2:c.1361_1362del XP_016873279.1:p.Tyr454CysfsTer?
XM_017017791.1:c.1361_1362del XP_016873280.1:p.Tyr454CysfsTer?
XM_017017792.2:c.1361_1362del XP_016873281.1:p.Tyr454CysfsTer?
XR_002957150.1:n.2094_2095del