Canonical Allele Identifier: CA912970714
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108287699_108287701del , CM000673.2:g.108287699_108287701del GRCh38
NC_000011.9:g.108158426_108158428del , CM000673.1:g.108158426_108158428del GRCh37
NC_000011.8:g.107663636_107663638del NCBI36
NG_009830.1:g.69868_69870del , LRG_135:g.69868_69870del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4093_4095del ENSP00000388058.2:p.Leu1365del
ENST00000713593.1:c.*3564_*3566del ENSP00000518889.1:n.*3564_*3566del
ENST00000278616.9:c.4093_4095del ENSP00000278616.4:p.Leu1365del
ENST00000533733.6:n.1356_1358del
ENST00000683174.1:n.4243_4245del
ENST00000527805.6:c.4093_4095del ENSP00000435747.2:p.Leu1365del
ENST00000675595.1:c.3928_3930del ENSP00000502563.1:p.Leu1310del
ENST00000675843.1:c.4093_4095del MANE Select ENSP00000501606.1:p.Leu1365del
ENST00000278616.8:c.4093_4095del ENSP00000278616.4:p.Leu1365del
ENST00000452508.6:c.4093_4095del ENSP00000388058.2:p.Leu1365del
ENST00000524792.5:n.308_310del
ENST00000527805.5:c.4093_4095del ENSP00000435747.1:p.Leu1365del
ENST00000531525.2:c.100_102del ENSP00000434327.2:p.Leu34del
ENST00000533733.5:n.522_524del
NM_000051.3:c.4093_4095del , LRG_135t1:c.4093_4095del NP_000042.3:p.Leu1365del
XM_005271561.3:c.4093_4095del XP_005271618.2:p.Leu1365del
XM_005271562.3:c.4093_4095del XP_005271619.2:p.Leu1365del
XM_006718843.2:c.4093_4095del XP_006718906.1:p.Leu1365del
XM_006718845.1:c.49_51del XP_006718908.1:p.Leu17del
XM_011542840.1:c.4093_4095del XP_011541142.1:p.Leu1365del
XM_011542841.1:c.4093_4095del XP_011541143.1:p.Leu1365del
XM_011542842.1:c.3928_3930del XP_011541144.1:p.Leu1310del
XM_011542843.1:c.4093_4095del XP_011541145.1:p.Leu1365del
XM_011542844.1:c.3049_3051del XP_011541146.1:p.Leu1017del
XM_011542845.1:c.2785_2787del XP_011541147.1:p.Leu929del
XM_011542846.1:c.4093_4095del XP_011541148.1:p.Leu1365del
NM_001351834.1:c.4093_4095del NP_001338763.1:p.Leu1365del
XM_005271562.5:c.4093_4095del XP_005271619.2:p.Leu1365del
XM_006718843.4:c.4093_4095del XP_006718906.1:p.Leu1365del
XM_006718845.2:c.49_51del XP_006718908.1:p.Leu17del
XM_011542840.3:c.4093_4095del XP_011541142.1:p.Leu1365del
XM_011542842.3:c.3928_3930del XP_011541144.1:p.Leu1310del
XM_011542843.2:c.4093_4095del XP_011541145.1:p.Leu1365del
XM_011542844.3:c.3049_3051del XP_011541146.1:p.Leu1017del
XM_011542845.2:c.2785_2787del XP_011541147.1:p.Leu929del
XM_017017789.2:c.4093_4095del XP_016873278.1:p.Leu1365del
XM_017017790.2:c.4093_4095del XP_016873279.1:p.Leu1365del
XM_017017791.1:c.4093_4095del XP_016873280.1:p.Leu1365del
XM_017017792.2:c.4093_4095del XP_016873281.1:p.Leu1365del
XR_002957150.1:n.4826_4828del
NM_001351834.2:c.4093_4095del NP_001338763.1:p.Leu1365del
NM_000051.4:c.4093_4095del MANE Select NP_000042.3:p.Leu1365del