Canonical Allele Identifier: CA645579309
Gene: ATM HGNC NCBI

Linked Data

COSMIC: COSM758348

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108287701_108287715del , CM000673.2:g.108287701_108287715del GRCh38
NC_000011.9:g.108158428_108158442del , CM000673.1:g.108158428_108158442del GRCh37
NC_000011.8:g.107663638_107663652del NCBI36
NG_009830.1:g.69870_69884del , LRG_135:g.69870_69884del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4095_4109del ENSP00000388058.2:p.Cys1366_Gly1370del
ENST00000713593.1:c.*3566_*3580del ENSP00000518889.1:n.*3566_*3580del
ENST00000278616.9:c.4095_4109del ENSP00000278616.4:p.Cys1366_Gly1370del
ENST00000533733.6:n.1358_1372del
ENST00000683174.1:n.4245_4259del
ENST00000527805.6:c.4095_4109del ENSP00000435747.2:p.Cys1366_Gly1370del
ENST00000675595.1:c.3930_3944del ENSP00000502563.1:p.Cys1311_Gly1315del
ENST00000675843.1:c.4095_4109del MANE Select ENSP00000501606.1:p.Cys1366_Gly1370del
ENST00000278616.8:c.4095_4109del ENSP00000278616.4:p.Cys1366_Gly1370del
ENST00000452508.6:c.4095_4109del ENSP00000388058.2:p.Cys1366_Gly1370del
ENST00000524792.5:n.310_324del
ENST00000531525.2:c.102_116del ENSP00000434327.2:p.Cys35_Gly39del
ENST00000533733.5:n.524_538del
NM_000051.3:c.4095_4109del , LRG_135t1:c.4095_4109del NP_000042.3:p.Cys1366_Gly1370del
XM_005271561.3:c.4095_4109del XP_005271618.2:p.Cys1366_Gly1370del
XM_005271562.3:c.4095_4109del XP_005271619.2:p.Cys1366_Gly1370del
XM_006718843.2:c.4095_4109del XP_006718906.1:p.Cys1366_Gly1370del
XM_006718845.1:c.51_65del XP_006718908.1:p.Cys18_Gly22del
XM_011542840.1:c.4095_4109del XP_011541142.1:p.Cys1366_Gly1370del
XM_011542841.1:c.4095_4109del XP_011541143.1:p.Cys1366_Gly1370del
XM_011542842.1:c.3930_3944del XP_011541144.1:p.Cys1311_Gly1315del
XM_011542843.1:c.4095_4109del XP_011541145.1:p.Cys1366_Gly1370del
XM_011542844.1:c.3051_3065del XP_011541146.1:p.Cys1018_Gly1022del
XM_011542845.1:c.2787_2801del XP_011541147.1:p.Cys930_Gly934del
XM_011542846.1:c.4095_4109del XP_011541148.1:p.Cys1366_Gly1370del
NM_001351834.1:c.4095_4109del NP_001338763.1:p.Cys1366_Gly1370del
XM_005271562.5:c.4095_4109del XP_005271619.2:p.Cys1366_Gly1370del
XM_006718843.4:c.4095_4109del XP_006718906.1:p.Cys1366_Gly1370del
XM_006718845.2:c.51_65del XP_006718908.1:p.Cys18_Gly22del
XM_011542840.3:c.4095_4109del XP_011541142.1:p.Cys1366_Gly1370del
XM_011542842.3:c.3930_3944del XP_011541144.1:p.Cys1311_Gly1315del
XM_011542843.2:c.4095_4109del XP_011541145.1:p.Cys1366_Gly1370del
XM_011542844.3:c.3051_3065del XP_011541146.1:p.Cys1018_Gly1022del
XM_011542845.2:c.2787_2801del XP_011541147.1:p.Cys930_Gly934del
XM_017017789.2:c.4095_4109del XP_016873278.1:p.Cys1366_Gly1370del
XM_017017790.2:c.4095_4109del XP_016873279.1:p.Cys1366_Gly1370del
XM_017017791.1:c.4095_4109del XP_016873280.1:p.Cys1366_Gly1370del
XM_017017792.2:c.4095_4109del XP_016873281.1:p.Cys1366_Gly1370del
XR_002957150.1:n.4828_4842del
NM_001351834.2:c.4095_4109del NP_001338763.1:p.Cys1366_Gly1370del
NM_000051.4:c.4095_4109del MANE Select NP_000042.3:p.Cys1366_Gly1370del