Canonical Allele Identifier: CA1998777175
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108258871_108258884delinsGCCCTAATAGTAAA , CM000673.2:g.108258871_108258884delinsGCCCTAATAGTAAA GRCh38
NC_000011.9:g.108129598_108129611delinsGCCCTAATAGTAAA , CM000673.1:g.108129598_108129611delinsGCCCTAATAGTAAA GRCh37
NC_000011.8:g.107634808_107634821delinsGCCCTAATAGTAAA NCBI36
NG_009830.1:g.41040_41053delinsGCCCTAATAGTAAA , LRG_135:g.41040_41053delinsGCCCTAATAGTAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.2377-115_2377-102delinsGCCCTAATAGTAAA ENSP00000388058.2:n.2377-115_2377-102deli...
ENST00000713593.1:c.*1848-115_*1848-102delinsGCCCTAATAGTAAA ENSP00000518889.1:n.*1848-115_*1848-102de...
ENST00000278616.9:c.2377-115_2377-102delinsGCCCTAATAGTAAA ENSP00000278616.4:n.2377-115_2377-102deli...
ENST00000682516.1:n.2511-115_2511-102delinsGCCCTAATAGTAAA
ENST00000683174.1:n.2527-115_2527-102delinsGCCCTAATAGTAAA
ENST00000683605.1:n.1872-115_1872-102delinsGCCCTAATAGTAAA
ENST00000684037.1:c.*1312-115_*1312-102delinsGCCCTAATAGTAAA ENSP00000508245.1:n.*1312-115_*1312-102de...
ENST00000527805.6:c.2377-115_2377-102delinsGCCCTAATAGTAAA ENSP00000435747.2:n.2377-115_2377-102deli...
ENST00000675595.1:c.2212-115_2212-102delinsGCCCTAATAGTAAA ENSP00000502563.1:n.2212-115_2212-102deli...
ENST00000675843.1:c.2377-115_2377-102delinsGCCCTAATAGTAAA MANE Select ENSP00000501606.1:n.2377-115_2377-102deli...
ENST00000278616.8:c.2377-115_2377-102delinsGCCCTAATAGTAAA ENSP00000278616.4:n.2377-115_2377-102deli...
ENST00000452508.6:c.2377-115_2377-102delinsGCCCTAATAGTAAA ENSP00000388058.2:n.2377-115_2377-102deli...
ENST00000527805.5:c.2377-115_2377-102delinsGCCCTAATAGTAAA ENSP00000435747.1:n.2377-115_2377-102deli...
NM_000051.3:c.2377-115_2377-102delinsGCCCTAATAGTAAA , LRG_135t1:c.2377-115_2377-102delinsGCCCTAATAGTAAA NP_000042.3:n.2377-115_2377-102delinsGCCC...
XM_005271561.3:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_005271618.2:n.2377-115_2377-102delinsG...
XM_005271562.3:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_005271619.2:n.2377-115_2377-102delinsG...
XM_006718843.2:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_006718906.1:n.2377-115_2377-102delinsG...
XM_011542840.1:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_011541142.1:n.2377-115_2377-102delinsG...
XM_011542841.1:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_011541143.1:n.2377-115_2377-102delinsG...
XM_011542842.1:c.2212-115_2212-102delinsGCCCTAATAGTAAA XP_011541144.1:n.2212-115_2212-102delinsG...
XM_011542843.1:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_011541145.1:n.2377-115_2377-102delinsG...
XM_011542844.1:c.1333-115_1333-102delinsGCCCTAATAGTAAA XP_011541146.1:n.1333-115_1333-102delinsG...
XM_011542845.1:c.1069-115_1069-102delinsGCCCTAATAGTAAA XP_011541147.1:n.1069-115_1069-102delinsG...
XM_011542846.1:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_011541148.1:n.2377-115_2377-102delinsG...
NM_001351834.1:c.2377-115_2377-102delinsGCCCTAATAGTAAA NP_001338763.1:n.2377-115_2377-102delinsG...
XM_005271562.5:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_005271619.2:n.2377-115_2377-102delinsG...
XM_006718843.4:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_006718906.1:n.2377-115_2377-102delinsG...
XM_011542840.3:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_011541142.1:n.2377-115_2377-102delinsG...
XM_011542842.3:c.2212-115_2212-102delinsGCCCTAATAGTAAA XP_011541144.1:n.2212-115_2212-102delinsG...
XM_011542843.2:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_011541145.1:n.2377-115_2377-102delinsG...
XM_011542844.3:c.1333-115_1333-102delinsGCCCTAATAGTAAA XP_011541146.1:n.1333-115_1333-102delinsG...
XM_011542845.2:c.1069-115_1069-102delinsGCCCTAATAGTAAA XP_011541147.1:n.1069-115_1069-102delinsG...
XM_017017789.2:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_016873278.1:n.2377-115_2377-102delinsG...
XM_017017790.2:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_016873279.1:n.2377-115_2377-102delinsG...
XM_017017791.1:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_016873280.1:n.2377-115_2377-102delinsG...
XM_017017792.2:c.2377-115_2377-102delinsGCCCTAATAGTAAA XP_016873281.1:n.2377-115_2377-102delinsG...
XR_002957150.1:n.3110-115_3110-102delinsGCCCTAATAGTAAA
NM_001351834.2:c.2377-115_2377-102delinsGCCCTAATAGTAAA NP_001338763.1:n.2377-115_2377-102delinsG...
NM_000051.4:c.2377-115_2377-102delinsGCCCTAATAGTAAA MANE Select NP_000042.3:n.2377-115_2377-102delinsGCCC...