Canonical Allele Identifier: CA16613385
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs1060501580

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108307903_108307904del , CM000673.2:g.108307903_108307904del GRCh38
NC_000011.9:g.108178630_108178631del , CM000673.1:g.108178630_108178631del GRCh37
NC_000011.8:g.107683840_107683841del NCBI36
NG_009830.1:g.90072_90073del , LRG_135:g.90072_90073del
NG_054724.1:g.166931_166932del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5681_5682del ENSP00000388058.2:p.Glu1894AlafsTer9
ENST00000713593.1:c.*5152_*5153del ENSP00000518889.1:n.*5152_*5153del
ENST00000278616.9:c.5681_5682del ENSP00000278616.4:p.Glu1894AlafsTer9
ENST00000525056.2:n.100_101del
ENST00000682286.1:n.438_439del
ENST00000682302.1:n.99_100del
ENST00000683174.1:n.7165_7166del
ENST00000683524.1:n.905_906del
ENST00000684152.1:n.1395_1396del
ENST00000527805.6:c.*745_*746del ENSP00000435747.2:n.*745_*746del
ENST00000675595.1:c.*745_*746del ENSP00000502563.1:n.*745_*746del
ENST00000675843.1:c.5681_5682del MANE Select ENSP00000501606.1:p.Glu1894AlafsTer9
ENST00000278616.8:c.5681_5682del ENSP00000278616.4:p.Glu1894AlafsTer9
ENST00000452508.6:c.5681_5682del ENSP00000388058.2:p.Glu1894AlafsTer9
ENST00000524792.5:n.1896_1897del
ENST00000529588.5:c.187-2257_187-2256del
ENST00000533690.5:n.1085_1086del
NM_000051.3:c.5681_5682del , LRG_135t1:c.5681_5682del NP_000042.3:p.Glu1894AlafsTer9
XM_005271561.3:c.5681_5682del XP_005271618.2:p.Glu1894AlafsTer9
XM_005271562.3:c.5681_5682del XP_005271619.2:p.Glu1894AlafsTer9
XM_006718843.2:c.5681_5682del XP_006718906.1:p.Glu1894AlafsTer9
XM_006718845.1:c.1637_1638del XP_006718908.1:p.Glu546AlafsTer9
XM_011542840.1:c.5681_5682del XP_011541142.1:p.Glu1894AlafsTer9
XM_011542841.1:c.5681_5682del XP_011541143.1:p.Glu1894AlafsTer9
XM_011542842.1:c.5516_5517del XP_011541144.1:p.Glu1839AlafsTer9
XM_011542843.1:c.5681_5682del XP_011541145.1:p.Glu1894AlafsTer9
XM_011542844.1:c.4637_4638del XP_011541146.1:p.Glu1546AlafsTer9
XM_011542845.1:c.4373_4374del XP_011541147.1:p.Glu1458AlafsTer9
XM_011542847.1:c.752_753del XP_011541149.1:p.Glu251AlafsTer9
NM_001351834.1:c.5681_5682del NP_001338763.1:p.Glu1894AlafsTer9
XM_005271562.5:c.5681_5682del XP_005271619.2:p.Glu1894AlafsTer9
XM_006718843.4:c.5681_5682del XP_006718906.1:p.Glu1894AlafsTer9
XM_006718845.2:c.1637_1638del XP_006718908.1:p.Glu546AlafsTer9
XM_011542840.3:c.5681_5682del XP_011541142.1:p.Glu1894AlafsTer9
XM_011542842.3:c.5516_5517del XP_011541144.1:p.Glu1839AlafsTer9
XM_011542843.2:c.5681_5682del XP_011541145.1:p.Glu1894AlafsTer9
XM_011542844.3:c.4637_4638del XP_011541146.1:p.Glu1546AlafsTer9
XM_011542845.2:c.4373_4374del XP_011541147.1:p.Glu1458AlafsTer9
XM_017017789.2:c.5681_5682del XP_016873278.1:p.Glu1894AlafsTer9
XM_017017790.2:c.5681_5682del XP_016873279.1:p.Glu1894AlafsTer9
XM_017017791.1:c.5681_5682del XP_016873280.1:p.Glu1894AlafsTer9
XR_002957150.1:n.6281_6282del
NM_001351834.2:c.5681_5682del NP_001338763.1:p.Glu1894AlafsTer9
NM_000051.4:c.5681_5682del MANE Select NP_000042.3:p.Glu1894AlafsTer9