Canonical Allele Identifier: CA2615846059
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108257350_108257351del , CM000673.2:g.108257350_108257351del GRCh38
NC_000011.9:g.108128077_108128078del , CM000673.1:g.108128077_108128078del GRCh37
NC_000011.8:g.107633287_107633288del NCBI36
NG_009830.1:g.39519_39520del , LRG_135:g.39519_39520del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2251-131_2251-130del ENSP00000388058.2:n.2251-131_2251-130del
ENST00000713593.1:c.*1722-131_*1722-130del ENSP00000518889.1:n.*1722-131_*1722-130del
ENST00000278616.9:c.2251-131_2251-130del ENSP00000278616.4:n.2251-131_2251-130del
ENST00000682516.1:n.2385-131_2385-130del
ENST00000683174.1:n.2401-131_2401-130del
ENST00000683605.1:n.1746-131_1746-130del
ENST00000684037.1:c.*1186-131_*1186-130del ENSP00000508245.1:n.*1186-131_*1186-130del
ENST00000527805.6:c.2251-131_2251-130del ENSP00000435747.2:n.2251-131_2251-130del
ENST00000675595.1:c.2086-131_2086-130del ENSP00000502563.1:n.2086-131_2086-130del
ENST00000675843.1:c.2251-131_2251-130del MANE Select ENSP00000501606.1:n.2251-131_2251-130del
ENST00000278616.8:c.2251-131_2251-130del ENSP00000278616.4:n.2251-131_2251-130del
ENST00000452508.6:c.2251-131_2251-130del ENSP00000388058.2:n.2251-131_2251-130del
ENST00000527805.5:c.2251-131_2251-130del ENSP00000435747.1:n.2251-131_2251-130del
NM_000051.3:c.2251-131_2251-130del , LRG_135t1:c.2251-131_2251-130del NP_000042.3:n.2251-131_2251-130del
XM_005271561.3:c.2251-131_2251-130del XP_005271618.2:n.2251-131_2251-130del
XM_005271562.3:c.2251-131_2251-130del XP_005271619.2:n.2251-131_2251-130del
XM_006718843.2:c.2251-131_2251-130del XP_006718906.1:n.2251-131_2251-130del
XM_011542840.1:c.2251-131_2251-130del XP_011541142.1:n.2251-131_2251-130del
XM_011542841.1:c.2251-131_2251-130del XP_011541143.1:n.2251-131_2251-130del
XM_011542842.1:c.2086-131_2086-130del XP_011541144.1:n.2086-131_2086-130del
XM_011542843.1:c.2251-131_2251-130del XP_011541145.1:n.2251-131_2251-130del
XM_011542844.1:c.1207-131_1207-130del XP_011541146.1:n.1207-131_1207-130del
XM_011542845.1:c.943-131_943-130del XP_011541147.1:n.943-131_943-130del
XM_011542846.1:c.2251-131_2251-130del XP_011541148.1:n.2251-131_2251-130del
NM_001351834.1:c.2251-131_2251-130del NP_001338763.1:n.2251-131_2251-130del
XM_005271562.5:c.2251-131_2251-130del XP_005271619.2:n.2251-131_2251-130del
XM_006718843.4:c.2251-131_2251-130del XP_006718906.1:n.2251-131_2251-130del
XM_011542840.3:c.2251-131_2251-130del XP_011541142.1:n.2251-131_2251-130del
XM_011542842.3:c.2086-131_2086-130del XP_011541144.1:n.2086-131_2086-130del
XM_011542843.2:c.2251-131_2251-130del XP_011541145.1:n.2251-131_2251-130del
XM_011542844.3:c.1207-131_1207-130del XP_011541146.1:n.1207-131_1207-130del
XM_011542845.2:c.943-131_943-130del XP_011541147.1:n.943-131_943-130del
XM_017017789.2:c.2251-131_2251-130del XP_016873278.1:n.2251-131_2251-130del
XM_017017790.2:c.2251-131_2251-130del XP_016873279.1:n.2251-131_2251-130del
XM_017017791.1:c.2251-131_2251-130del XP_016873280.1:n.2251-131_2251-130del
XM_017017792.2:c.2251-131_2251-130del XP_016873281.1:n.2251-131_2251-130del
XR_002957150.1:n.2984-131_2984-130del
NM_001351834.2:c.2251-131_2251-130del NP_001338763.1:n.2251-131_2251-130del
NM_000051.4:c.2251-131_2251-130del MANE Select NP_000042.3:n.2251-131_2251-130del