Canonical Allele Identifier: CA2825001780

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148527
• ClinVar RCV Id: RCV004442420

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253951_108253953delinsTCCACCAGAA , CM000673.2:g.108253951_108253953delinsTCCACCAGAA	GRCh38
NC_000011.9:g.108124678_108124680delinsTCCACCAGAA , CM000673.1:g.108124678_108124680delinsTCCACCAGAA	GRCh37
NC_000011.8:g.107629888_107629890delinsTCCACCAGAA	NCBI36
NG_009830.1:g.36120_36122delinsTCCACCAGAA , LRG_135:g.36120_36122delinsTCCACCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2036_2038delinsTCCACCAGAA	ENSP00000388058.2:p.Gly679ValfsTer28
ENST00000713593.1:c.*1507_*1509delinsTCCACCAGAA	ENSP00000518889.1:n.*1507_*1509delinsTCCACCAGAA
ENST00000278616.9:c.2036_2038delinsTCCACCAGAA	ENSP00000278616.4:p.Gly679ValfsTer28
ENST00000682516.1:n.2170_2172delinsTCCACCAGAA
ENST00000683174.1:n.2186_2188delinsTCCACCAGAA
ENST00000683605.1:n.1531_1533delinsTCCACCAGAA
ENST00000684037.1:c.*971_*973delinsTCCACCAGAA	ENSP00000508245.1:n.*971_*973delinsTCCACCAGAA
ENST00000684061.1:n.2170_2172delinsTCCACCAGAA
ENST00000527805.6:c.2036_2038delinsTCCACCAGAA	ENSP00000435747.2:p.Gly679ValfsTer28
ENST00000675595.1:c.1871_1873delinsTCCACCAGAA	ENSP00000502563.1:p.Gly624ValfsTer28
ENST00000675843.1:c.2036_2038delinsTCCACCAGAA MANE Select	ENSP00000501606.1:p.Gly679ValfsTer28
ENST00000278616.8:c.2036_2038delinsTCCACCAGAA	ENSP00000278616.4:p.Gly679ValfsTer28
ENST00000452508.6:c.2036_2038delinsTCCACCAGAA	ENSP00000388058.2:p.Gly679ValfsTer28
ENST00000525012.5:n.213_215delinsTCCACCAGAA
ENST00000527805.5:c.2036_2038delinsTCCACCAGAA	ENSP00000435747.1:p.Gly679ValfsTer28
ENST00000533526.1:n.189_191delinsTCCACCAGAA
NM_000051.3:c.2036_2038delinsTCCACCAGAA , LRG_135t1:c.2036_2038delinsTCCACCAGAA	NP_000042.3:p.Gly679ValfsTer28
XM_005271561.3:c.2036_2038delinsTCCACCAGAA	XP_005271618.2:p.Gly679ValfsTer28
XM_005271562.3:c.2036_2038delinsTCCACCAGAA	XP_005271619.2:p.Gly679ValfsTer28
XM_006718843.2:c.2036_2038delinsTCCACCAGAA	XP_006718906.1:p.Gly679ValfsTer28
XM_011542840.1:c.2036_2038delinsTCCACCAGAA	XP_011541142.1:p.Gly679ValfsTer28
XM_011542841.1:c.2036_2038delinsTCCACCAGAA	XP_011541143.1:p.Gly679ValfsTer28
XM_011542842.1:c.1871_1873delinsTCCACCAGAA	XP_011541144.1:p.Gly624ValfsTer28
XM_011542843.1:c.2036_2038delinsTCCACCAGAA	XP_011541145.1:p.Gly679ValfsTer28
XM_011542844.1:c.992_994delinsTCCACCAGAA	XP_011541146.1:p.Gly331ValfsTer28
XM_011542845.1:c.728_730delinsTCCACCAGAA	XP_011541147.1:p.Gly243ValfsTer28
XM_011542846.1:c.2036_2038delinsTCCACCAGAA	XP_011541148.1:p.Gly679ValfsTer28
NM_001351834.1:c.2036_2038delinsTCCACCAGAA	NP_001338763.1:p.Gly679ValfsTer28
XM_005271562.5:c.2036_2038delinsTCCACCAGAA	XP_005271619.2:p.Gly679ValfsTer28
XM_006718843.4:c.2036_2038delinsTCCACCAGAA	XP_006718906.1:p.Gly679ValfsTer28
XM_011542840.3:c.2036_2038delinsTCCACCAGAA	XP_011541142.1:p.Gly679ValfsTer28
XM_011542842.3:c.1871_1873delinsTCCACCAGAA	XP_011541144.1:p.Gly624ValfsTer28
XM_011542843.2:c.2036_2038delinsTCCACCAGAA	XP_011541145.1:p.Gly679ValfsTer28
XM_011542844.3:c.992_994delinsTCCACCAGAA	XP_011541146.1:p.Gly331ValfsTer28
XM_011542845.2:c.728_730delinsTCCACCAGAA	XP_011541147.1:p.Gly243ValfsTer28
XM_017017789.2:c.2036_2038delinsTCCACCAGAA	XP_016873278.1:p.Gly679ValfsTer28
XM_017017790.2:c.2036_2038delinsTCCACCAGAA	XP_016873279.1:p.Gly679ValfsTer28
XM_017017791.1:c.2036_2038delinsTCCACCAGAA	XP_016873280.1:p.Gly679ValfsTer28
XM_017017792.2:c.2036_2038delinsTCCACCAGAA	XP_016873281.1:p.Gly679ValfsTer28
XR_002957150.1:n.2769_2771delinsTCCACCAGAA
NM_001351834.2:c.2036_2038delinsTCCACCAGAA	NP_001338763.1:p.Gly679ValfsTer28
NM_000051.4:c.2036_2038delinsTCCACCAGAA MANE Select	NP_000042.3:p.Gly679ValfsTer28