Canonical Allele Identifier: CA645579306
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108284364_108284366del , CM000673.2:g.108284364_108284366del GRCh38
NC_000011.9:g.108155091_108155093del , CM000673.1:g.108155091_108155093del GRCh37
NC_000011.8:g.107660301_107660303del NCBI36
NG_009830.1:g.66533_66535del , LRG_135:g.66533_66535del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.3884_3886del ENSP00000388058.2:p.Leu1295del
ENST00000713593.1:c.*3355_*3357del ENSP00000518889.1:n.*3355_*3357del
ENST00000278616.9:c.3884_3886del ENSP00000278616.4:p.Leu1295del
ENST00000682289.1:n.231_233del
ENST00000683174.1:n.4034_4036del
ENST00000527805.6:c.3884_3886del ENSP00000435747.2:p.Leu1295del
ENST00000675595.1:c.3719_3721del ENSP00000502563.1:p.Leu1240del
ENST00000675843.1:c.3884_3886del MANE Select ENSP00000501606.1:p.Leu1295del
ENST00000278616.8:c.3884_3886del ENSP00000278616.4:p.Leu1295del
ENST00000452508.6:c.3884_3886del ENSP00000388058.2:p.Leu1295del
ENST00000527805.5:c.3884_3886del ENSP00000435747.1:p.Leu1295del
NM_000051.3:c.3884_3886del , LRG_135t1:c.3884_3886del NP_000042.3:p.Leu1295del
XM_005271561.3:c.3884_3886del XP_005271618.2:p.Leu1295del
XM_005271562.3:c.3884_3886del XP_005271619.2:p.Leu1295del
XM_006718843.2:c.3884_3886del XP_006718906.1:p.Leu1295del
XM_011542840.1:c.3884_3886del XP_011541142.1:p.Leu1295del
XM_011542841.1:c.3884_3886del XP_011541143.1:p.Leu1295del
XM_011542842.1:c.3719_3721del XP_011541144.1:p.Leu1240del
XM_011542843.1:c.3884_3886del XP_011541145.1:p.Leu1295del
XM_011542844.1:c.2840_2842del XP_011541146.1:p.Leu947del
XM_011542845.1:c.2576_2578del XP_011541147.1:p.Leu859del
XM_011542846.1:c.3884_3886del XP_011541148.1:p.Leu1295del
NM_001351834.1:c.3884_3886del NP_001338763.1:p.Leu1295del
XM_005271562.5:c.3884_3886del XP_005271619.2:p.Leu1295del
XM_006718843.4:c.3884_3886del XP_006718906.1:p.Leu1295del
XM_011542840.3:c.3884_3886del XP_011541142.1:p.Leu1295del
XM_011542842.3:c.3719_3721del XP_011541144.1:p.Leu1240del
XM_011542843.2:c.3884_3886del XP_011541145.1:p.Leu1295del
XM_011542844.3:c.2840_2842del XP_011541146.1:p.Leu947del
XM_011542845.2:c.2576_2578del XP_011541147.1:p.Leu859del
XM_017017789.2:c.3884_3886del XP_016873278.1:p.Leu1295del
XM_017017790.2:c.3884_3886del XP_016873279.1:p.Leu1295del
XM_017017791.1:c.3884_3886del XP_016873280.1:p.Leu1295del
XM_017017792.2:c.3884_3886del XP_016873281.1:p.Leu1295del
XR_002957150.1:n.4617_4619del
NM_001351834.2:c.3884_3886del NP_001338763.1:p.Leu1295del
NM_000051.4:c.3884_3886del MANE Select NP_000042.3:p.Leu1295del