Canonical Allele Identifier: CA2615850685
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108229132_108229133del , CM000673.2:g.108229132_108229133del GRCh38
NC_000011.9:g.108099859_108099860del , CM000673.1:g.108099859_108099860del GRCh37
NC_000011.8:g.107605069_107605070del NCBI36
NG_009830.1:g.11301_11302del , LRG_135:g.11301_11302del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.186-46_186-45del ENSP00000388058.2:n.186-46_186-45del
ENST00000683914.2:c.186-46_186-45del ENSP00000507649.1:n.186-46_186-45del
ENST00000713593.1:c.186-46_186-45del ENSP00000518889.1:n.186-46_186-45del
ENST00000278616.9:c.186-46_186-45del ENSP00000278616.4:n.186-46_186-45del
ENST00000682147.1:n.316-46_316-45del
ENST00000682430.1:n.285-46_285-45del
ENST00000682465.1:c.186-46_186-45del ENSP00000508284.1:n.186-46_186-45del
ENST00000682516.1:n.320-46_320-45del
ENST00000682956.1:n.320-46_320-45del
ENST00000683150.1:c.186-46_186-45del ENSP00000507125.1:n.186-46_186-45del
ENST00000683174.1:n.336-46_336-45del
ENST00000683468.1:c.186-46_186-45del ENSP00000508178.1:n.186-46_186-45del
ENST00000683488.1:n.4846-46_4846-45del
ENST00000683914.1:c.186-46_186-45del ENSP00000507649.1:n.186-46_186-45del
ENST00000684029.1:c.186-46_186-45del ENSP00000508010.1:n.186-46_186-45del
ENST00000684037.1:c.186-46_186-45del ENSP00000508245.1:n.186-46_186-45del
ENST00000684061.1:n.320-46_320-45del
ENST00000684179.1:n.320-46_320-45del
ENST00000527805.6:c.186-46_186-45del ENSP00000435747.2:n.186-46_186-45del
ENST00000638443.1:c.186-46_186-45del ENSP00000491957.1:n.186-46_186-45del
ENST00000639240.1:c.186-46_186-45del ENSP00000491585.1:n.186-46_186-45del
ENST00000639953.1:c.186-46_186-45del ENSP00000492487.1:n.186-46_186-45del
ENST00000640388.1:c.186-46_186-45del ENSP00000492354.1:n.186-46_186-45del
ENST00000675595.1:c.186-46_186-45del ENSP00000502563.1:n.186-46_186-45del
ENST00000675843.1:c.186-46_186-45del MANE Select ENSP00000501606.1:n.186-46_186-45del
ENST00000278616.8:c.186-46_186-45del ENSP00000278616.4:n.186-46_186-45del
ENST00000452508.6:c.186-46_186-45del ENSP00000388058.2:n.186-46_186-45del
ENST00000526567.5:c.186-46_186-45del ENSP00000480205.1:n.186-46_186-45del
ENST00000527805.5:c.186-46_186-45del ENSP00000435747.1:n.186-46_186-45del
ENST00000527891.5:c.186-46_186-45del ENSP00000433955.1:n.186-46_186-45del
ENST00000530958.5:c.186-46_186-45del ENSP00000483338.1:n.186-46_186-45del
ENST00000532931.5:c.186-46_186-45del ENSP00000432318.1:n.186-46_186-45del
ENST00000601453.2:c.186-46_186-45del ENSP00000469471.1:n.186-46_186-45del
NM_000051.3:c.186-46_186-45del , LRG_135t1:c.186-46_186-45del NP_000042.3:n.186-46_186-45del
XM_005271561.3:c.186-46_186-45del XP_005271618.2:n.186-46_186-45del
XM_005271562.3:c.186-46_186-45del XP_005271619.2:n.186-46_186-45del
XM_006718843.2:c.186-46_186-45del XP_006718906.1:n.186-46_186-45del
XM_011542840.1:c.186-46_186-45del XP_011541142.1:n.186-46_186-45del
XM_011542841.1:c.186-46_186-45del XP_011541143.1:n.186-46_186-45del
XM_011542842.1:c.186-46_186-45del XP_011541144.1:n.186-46_186-45del
XM_011542843.1:c.186-46_186-45del XP_011541145.1:n.186-46_186-45del
XM_011542846.1:c.186-46_186-45del XP_011541148.1:n.186-46_186-45del
NM_001351834.1:c.186-46_186-45del NP_001338763.1:n.186-46_186-45del
NM_001351835.1:c.186-46_186-45del NP_001338764.1:n.186-46_186-45del
NM_001351836.1:c.186-46_186-45del NP_001338765.1:n.186-46_186-45del
XM_005271562.5:c.186-46_186-45del XP_005271619.2:n.186-46_186-45del
XM_006718843.4:c.186-46_186-45del XP_006718906.1:n.186-46_186-45del
XM_011542840.3:c.186-46_186-45del XP_011541142.1:n.186-46_186-45del
XM_011542842.3:c.186-46_186-45del XP_011541144.1:n.186-46_186-45del
XM_011542843.2:c.186-46_186-45del XP_011541145.1:n.186-46_186-45del
XM_011542844.3:c.-837-46_-837-45del XP_011541146.1:n.-837-46_-837-45del
XM_017017789.2:c.186-46_186-45del XP_016873278.1:n.186-46_186-45del
XM_017017790.2:c.186-46_186-45del XP_016873279.1:n.186-46_186-45del
XM_017017791.1:c.186-46_186-45del XP_016873280.1:n.186-46_186-45del
XM_017017792.2:c.186-46_186-45del XP_016873281.1:n.186-46_186-45del
XR_002957150.1:n.919-46_919-45del
NM_001351834.2:c.186-46_186-45del NP_001338763.1:n.186-46_186-45del
NM_000051.4:c.186-46_186-45del MANE Select NP_000042.3:n.186-46_186-45del
NM_001351835.2:c.186-46_186-45del NP_001338764.1:n.186-46_186-45del
NM_001351836.2:c.186-46_186-45del NP_001338765.1:n.186-46_186-45del