Canonical Allele Identifier: CA912970729
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108293280_108293283del , CM000673.2:g.108293280_108293283del GRCh38
NC_000011.9:g.108164007_108164010del , CM000673.1:g.108164007_108164010del GRCh37
NC_000011.8:g.107669217_107669220del NCBI36
NG_009830.1:g.75449_75452del , LRG_135:g.75449_75452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4612-33_4612-30del ENSP00000388058.2:n.4612-33_4612-30del
ENST00000713593.1:c.*4083-33_*4083-30del ENSP00000518889.1:n.*4083-33_*4083-30del
ENST00000278616.9:c.4612-33_4612-30del ENSP00000278616.4:n.4612-33_4612-30del
ENST00000683174.1:n.4762-33_4762-30del
ENST00000527805.6:c.4611+487_4611+490del ENSP00000435747.2:n.4611+487_4611+490del
ENST00000675595.1:c.4447-33_4447-30del ENSP00000502563.1:n.4447-33_4447-30del
ENST00000675843.1:c.4612-33_4612-30del MANE Select ENSP00000501606.1:n.4612-33_4612-30del
ENST00000278616.8:c.4612-33_4612-30del ENSP00000278616.4:n.4612-33_4612-30del
ENST00000452508.6:c.4612-33_4612-30del ENSP00000388058.2:n.4612-33_4612-30del
ENST00000524792.5:n.827-33_827-30del
ENST00000531525.2:c.444-1647_444-1644del ENSP00000434327.2:n.444-1647_444-1644del
NM_000051.3:c.4612-33_4612-30del , LRG_135t1:c.4612-33_4612-30del NP_000042.3:n.4612-33_4612-30del
XM_005271561.3:c.4612-33_4612-30del XP_005271618.2:n.4612-33_4612-30del
XM_005271562.3:c.4612-33_4612-30del XP_005271619.2:n.4612-33_4612-30del
XM_006718843.2:c.4612-33_4612-30del XP_006718906.1:n.4612-33_4612-30del
XM_006718845.1:c.568-33_568-30del XP_006718908.1:n.568-33_568-30del
XM_011542840.1:c.4612-33_4612-30del XP_011541142.1:n.4612-33_4612-30del
XM_011542841.1:c.4612-33_4612-30del XP_011541143.1:n.4612-33_4612-30del
XM_011542842.1:c.4447-33_4447-30del XP_011541144.1:n.4447-33_4447-30del
XM_011542843.1:c.4612-33_4612-30del XP_011541145.1:n.4612-33_4612-30del
XM_011542844.1:c.3568-33_3568-30del XP_011541146.1:n.3568-33_3568-30del
XM_011542845.1:c.3304-33_3304-30del XP_011541147.1:n.3304-33_3304-30del
XM_011542846.1:c.4612-33_4612-30del XP_011541148.1:n.4612-33_4612-30del
NM_001351834.1:c.4612-33_4612-30del NP_001338763.1:n.4612-33_4612-30del
XM_005271562.5:c.4612-33_4612-30del XP_005271619.2:n.4612-33_4612-30del
XM_006718843.4:c.4612-33_4612-30del XP_006718906.1:n.4612-33_4612-30del
XM_006718845.2:c.568-33_568-30del XP_006718908.1:n.568-33_568-30del
XM_011542840.3:c.4612-33_4612-30del XP_011541142.1:n.4612-33_4612-30del
XM_011542842.3:c.4447-33_4447-30del XP_011541144.1:n.4447-33_4447-30del
XM_011542843.2:c.4612-33_4612-30del XP_011541145.1:n.4612-33_4612-30del
XM_011542844.3:c.3568-33_3568-30del XP_011541146.1:n.3568-33_3568-30del
XM_011542845.2:c.3304-33_3304-30del XP_011541147.1:n.3304-33_3304-30del
XM_017017789.2:c.4612-33_4612-30del XP_016873278.1:n.4612-33_4612-30del
XM_017017790.2:c.4612-33_4612-30del XP_016873279.1:n.4612-33_4612-30del
XM_017017791.1:c.4612-33_4612-30del XP_016873280.1:n.4612-33_4612-30del
XM_017017792.2:c.4612-33_4612-30del XP_016873281.1:n.4612-33_4612-30del
XR_002957150.1:n.5345-33_5345-30del
NM_001351834.2:c.4612-33_4612-30del NP_001338763.1:n.4612-33_4612-30del
NM_000051.4:c.4612-33_4612-30del MANE Select NP_000042.3:n.4612-33_4612-30del