Canonical Allele Identifier: CA1998795342
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108287585_108287593delinsTTTGTGCCC , CM000673.2:g.108287585_108287593delinsTTTGTGCCC GRCh38
NC_000011.9:g.108158312_108158320delinsTTTGTGCCC , CM000673.1:g.108158312_108158320delinsTTTGTGCCC GRCh37
NC_000011.8:g.107663522_107663530delinsTTTGTGCCC NCBI36
NG_009830.1:g.69754_69762delinsTTTGTGCCC , LRG_135:g.69754_69762delinsTTTGTGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.3994-15_3994-7delinsTTTGTGCCC ENSP00000388058.2:n.3994-15_3994-7delinsTTTGTGCCC
ENST00000713593.1:c.*3465-15_*3465-7delinsTTTGTGCCC ENSP00000518889.1:n.*3465-15_*3465-7delinsTTTGTGCCC
ENST00000278616.9:c.3994-15_3994-7delinsTTTGTGCCC ENSP00000278616.4:n.3994-15_3994-7delinsTTTGTGCCC
ENST00000533733.6:n.1242_1250delinsTTTGTGCCC
ENST00000683174.1:n.4144-15_4144-7delinsTTTGTGCCC
ENST00000527805.6:c.3994-15_3994-7delinsTTTGTGCCC ENSP00000435747.2:n.3994-15_3994-7delinsTTTGTGCCC
ENST00000675595.1:c.3829-15_3829-7delinsTTTGTGCCC ENSP00000502563.1:n.3829-15_3829-7delinsTTTGTGCCC
ENST00000675843.1:c.3994-15_3994-7delinsTTTGTGCCC MANE Select ENSP00000501606.1:n.3994-15_3994-7delinsTTTGTGCCC
ENST00000278616.8:c.3994-15_3994-7delinsTTTGTGCCC ENSP00000278616.4:n.3994-15_3994-7delinsTTTGTGCCC
ENST00000452508.6:c.3994-15_3994-7delinsTTTGTGCCC ENSP00000388058.2:n.3994-15_3994-7delinsTTTGTGCCC
ENST00000524792.5:n.194_202delinsTTTGTGCCC
ENST00000527805.5:c.3994-15_3994-7delinsTTTGTGCCC ENSP00000435747.1:n.3994-15_3994-7delinsTTTGTGCCC
ENST00000533733.5:n.408_416delinsTTTGTGCCC
NM_000051.3:c.3994-15_3994-7delinsTTTGTGCCC , LRG_135t1:c.3994-15_3994-7delinsTTTGTGCCC NP_000042.3:n.3994-15_3994-7delinsTTTGTGCCC
XM_005271561.3:c.3994-15_3994-7delinsTTTGTGCCC XP_005271618.2:n.3994-15_3994-7delinsTTTGTGCCC
XM_005271562.3:c.3994-15_3994-7delinsTTTGTGCCC XP_005271619.2:n.3994-15_3994-7delinsTTTGTGCCC
XM_006718843.2:c.3994-15_3994-7delinsTTTGTGCCC XP_006718906.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_006718845.1:c.-51-15_-51-7delinsTTTGTGCCC XP_006718908.1:n.-51-15_-51-7delinsTTTGTGCCC
XM_011542840.1:c.3994-15_3994-7delinsTTTGTGCCC XP_011541142.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_011542841.1:c.3994-15_3994-7delinsTTTGTGCCC XP_011541143.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_011542842.1:c.3829-15_3829-7delinsTTTGTGCCC XP_011541144.1:n.3829-15_3829-7delinsTTTGTGCCC
XM_011542843.1:c.3994-15_3994-7delinsTTTGTGCCC XP_011541145.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_011542844.1:c.2950-15_2950-7delinsTTTGTGCCC XP_011541146.1:n.2950-15_2950-7delinsTTTGTGCCC
XM_011542845.1:c.2686-15_2686-7delinsTTTGTGCCC XP_011541147.1:n.2686-15_2686-7delinsTTTGTGCCC
XM_011542846.1:c.3994-15_3994-7delinsTTTGTGCCC XP_011541148.1:n.3994-15_3994-7delinsTTTGTGCCC
NM_001351834.1:c.3994-15_3994-7delinsTTTGTGCCC NP_001338763.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_005271562.5:c.3994-15_3994-7delinsTTTGTGCCC XP_005271619.2:n.3994-15_3994-7delinsTTTGTGCCC
XM_006718843.4:c.3994-15_3994-7delinsTTTGTGCCC XP_006718906.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_006718845.2:c.-51-15_-51-7delinsTTTGTGCCC XP_006718908.1:n.-51-15_-51-7delinsTTTGTGCCC
XM_011542840.3:c.3994-15_3994-7delinsTTTGTGCCC XP_011541142.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_011542842.3:c.3829-15_3829-7delinsTTTGTGCCC XP_011541144.1:n.3829-15_3829-7delinsTTTGTGCCC
XM_011542843.2:c.3994-15_3994-7delinsTTTGTGCCC XP_011541145.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_011542844.3:c.2950-15_2950-7delinsTTTGTGCCC XP_011541146.1:n.2950-15_2950-7delinsTTTGTGCCC
XM_011542845.2:c.2686-15_2686-7delinsTTTGTGCCC XP_011541147.1:n.2686-15_2686-7delinsTTTGTGCCC
XM_017017789.2:c.3994-15_3994-7delinsTTTGTGCCC XP_016873278.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_017017790.2:c.3994-15_3994-7delinsTTTGTGCCC XP_016873279.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_017017791.1:c.3994-15_3994-7delinsTTTGTGCCC XP_016873280.1:n.3994-15_3994-7delinsTTTGTGCCC
XM_017017792.2:c.3994-15_3994-7delinsTTTGTGCCC XP_016873281.1:n.3994-15_3994-7delinsTTTGTGCCC
XR_002957150.1:n.4727-15_4727-7delinsTTTGTGCCC
NM_001351834.2:c.3994-15_3994-7delinsTTTGTGCCC NP_001338763.1:n.3994-15_3994-7delinsTTTGTGCCC
NM_000051.4:c.3994-15_3994-7delinsTTTGTGCCC MANE Select NP_000042.3:n.3994-15_3994-7delinsTTTGTGCCC