Canonical Allele Identifier: CA658656211
Community Standard Title: NM_000051.4(ATM):c.2338_2340del (p.Met780del)
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108257568_108257570del , CM000673.2:g.108257568_108257570del GRCh38
NC_000011.9:g.108128295_108128297del , CM000673.1:g.108128295_108128297del GRCh37
NC_000011.8:g.107633505_107633507del NCBI36
NG_009830.1:g.39737_39739del , LRG_135:g.39737_39739del

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.2338_2340del MANE Select NP_000042.3:p.Met780del
ENST00000675843.1:c.2338_2340del MANE Select ENSP00000501606.1:p.Met780del
NM_000051.3:c.2338_2340del , LRG_135t1:c.2338_2340del NP_000042.3:p.Met780del
NM_001351834.1:c.2338_2340del NP_001338763.1:p.Met780del
NM_001351834.2:c.2338_2340del NP_001338763.1:p.Met780del
ENST00000278616.8:c.2338_2340del ENSP00000278616.4:p.Met780del
ENST00000278616.9:c.2338_2340del ENSP00000278616.4:p.Met780del
ENST00000452508.6:c.2338_2340del ENSP00000388058.2:p.Met780del
ENST00000452508.7:c.2338_2340del ENSP00000388058.2:p.Met780del
ENST00000527805.5:c.2338_2340del ENSP00000435747.1:p.Met780del
ENST00000527805.6:c.2338_2340del ENSP00000435747.2:p.Met780del
ENST00000675595.1:c.2173_2175del ENSP00000502563.1:p.Met725del
ENST00000682516.1:n.2472_2474del
ENST00000683174.1:n.2488_2490del
ENST00000683605.1:n.1833_1835del
ENST00000684037.1:c.*1273_*1275del ENSP00000508245.1:n.*1273_*1275del
ENST00000713593.1:c.*1809_*1811del ENSP00000518889.1:n.*1809_*1811del
XM_005271561.3:c.2338_2340del XP_005271618.2:p.Met780del
XM_005271562.3:c.2338_2340del XP_005271619.2:p.Met780del
XM_005271562.5:c.2338_2340del XP_005271619.2:p.Met780del
XM_006718843.2:c.2338_2340del XP_006718906.1:p.Met780del
XM_006718843.4:c.2338_2340del XP_006718906.1:p.Met780del
XM_011542840.1:c.2338_2340del XP_011541142.1:p.Met780del
XM_011542840.3:c.2338_2340del XP_011541142.1:p.Met780del
XM_011542841.1:c.2338_2340del XP_011541143.1:p.Met780del
XM_011542842.1:c.2173_2175del XP_011541144.1:p.Met725del
XM_011542842.3:c.2173_2175del XP_011541144.1:p.Met725del
XM_011542843.1:c.2338_2340del XP_011541145.1:p.Met780del
XM_011542843.2:c.2338_2340del XP_011541145.1:p.Met780del
XM_011542844.1:c.1294_1296del XP_011541146.1:p.Met432del
XM_011542844.3:c.1294_1296del XP_011541146.1:p.Met432del
XM_011542845.1:c.1030_1032del XP_011541147.1:p.Met344del
XM_011542845.2:c.1030_1032del XP_011541147.1:p.Met344del
XM_011542846.1:c.2338_2340del XP_011541148.1:p.Met780del
XM_017017789.2:c.2338_2340del XP_016873278.1:p.Met780del
XM_017017790.2:c.2338_2340del XP_016873279.1:p.Met780del
XM_017017791.1:c.2338_2340del XP_016873280.1:p.Met780del
XM_017017792.2:c.2338_2340del XP_016873281.1:p.Met780del
XR_002957150.1:n.3071_3073del