Canonical Allele Identifier: CA2825001901

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148436
• ClinVar RCV Id: RCV004440342

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302948_108302949insTCCT , CM000673.2:g.108302948_108302949insTCCT	GRCh38
NC_000011.9:g.108173675_108173676insTCCT , CM000673.1:g.108173675_108173676insTCCT	GRCh37
NC_000011.8:g.107678885_107678886insTCCT	NCBI36
NG_009830.1:g.85117_85118insTCCT , LRG_135:g.85117_85118insTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5415_5416insTCCT	ENSP00000388058.2:p.Ile1806SerfsTer18
ENST00000713593.1:c.*4886_*4887insTCCT	ENSP00000518889.1:n.*4886_*4887insTCCT
ENST00000278616.9:c.5415_5416insTCCT	ENSP00000278616.4:p.Ile1806SerfsTer18
ENST00000683174.1:n.6899_6900insTCCT
ENST00000683524.1:n.639_640insTCCT
ENST00000684152.1:n.1129_1130insTCCT
ENST00000527805.6:c.*479_*480insTCCT	ENSP00000435747.2:n.*479_*480insTCCT
ENST00000675595.1:c.*479_*480insTCCT	ENSP00000502563.1:n.*479_*480insTCCT
ENST00000675843.1:c.5415_5416insTCCT MANE Select	ENSP00000501606.1:p.Ile1806SerfsTer18
ENST00000278616.8:c.5415_5416insTCCT	ENSP00000278616.4:p.Ile1806SerfsTer18
ENST00000452508.6:c.5415_5416insTCCT	ENSP00000388058.2:p.Ile1806SerfsTer18
ENST00000524792.5:n.1630_1631insTCCT
ENST00000533690.5:n.819_820insTCCT
ENST00000534625.1:n.644_645insTCCT
NM_000051.3:c.5415_5416insTCCT , LRG_135t1:c.5415_5416insTCCT	NP_000042.3:p.Ile1806SerfsTer18
XM_005271561.3:c.5415_5416insTCCT	XP_005271618.2:p.Ile1806SerfsTer18
XM_005271562.3:c.5415_5416insTCCT	XP_005271619.2:p.Ile1806SerfsTer18
XM_006718843.2:c.5415_5416insTCCT	XP_006718906.1:p.Ile1806SerfsTer18
XM_006718845.1:c.1371_1372insTCCT	XP_006718908.1:p.Ile458SerfsTer18
XM_011542840.1:c.5415_5416insTCCT	XP_011541142.1:p.Ile1806SerfsTer18
XM_011542841.1:c.5415_5416insTCCT	XP_011541143.1:p.Ile1806SerfsTer18
XM_011542842.1:c.5250_5251insTCCT	XP_011541144.1:p.Ile1751SerfsTer18
XM_011542843.1:c.5415_5416insTCCT	XP_011541145.1:p.Ile1806SerfsTer18
XM_011542844.1:c.4371_4372insTCCT	XP_011541146.1:p.Ile1458SerfsTer18
XM_011542845.1:c.4107_4108insTCCT	XP_011541147.1:p.Ile1370SerfsTer18
XM_011542846.1:c.*73_*74insTCCT	XP_011541148.1:n.*73_*74insTCCT
XM_011542847.1:c.486_487insTCCT	XP_011541149.1:p.Ile163SerfsTer18
NM_001351834.1:c.5415_5416insTCCT	NP_001338763.1:p.Ile1806SerfsTer18
XM_005271562.5:c.5415_5416insTCCT	XP_005271619.2:p.Ile1806SerfsTer18
XM_006718843.4:c.5415_5416insTCCT	XP_006718906.1:p.Ile1806SerfsTer18
XM_006718845.2:c.1371_1372insTCCT	XP_006718908.1:p.Ile458SerfsTer18
XM_011542840.3:c.5415_5416insTCCT	XP_011541142.1:p.Ile1806SerfsTer18
XM_011542842.3:c.5250_5251insTCCT	XP_011541144.1:p.Ile1751SerfsTer18
XM_011542843.2:c.5415_5416insTCCT	XP_011541145.1:p.Ile1806SerfsTer18
XM_011542844.3:c.4371_4372insTCCT	XP_011541146.1:p.Ile1458SerfsTer18
XM_011542845.2:c.4107_4108insTCCT	XP_011541147.1:p.Ile1370SerfsTer18
XM_017017789.2:c.5415_5416insTCCT	XP_016873278.1:p.Ile1806SerfsTer18
XM_017017790.2:c.5415_5416insTCCT	XP_016873279.1:p.Ile1806SerfsTer18
XM_017017791.1:c.5415_5416insTCCT	XP_016873280.1:p.Ile1806SerfsTer18
XR_002957150.1:n.6015_6016insTCCT
NM_001351834.2:c.5415_5416insTCCT	NP_001338763.1:p.Ile1806SerfsTer18
NM_000051.4:c.5415_5416insTCCT MANE Select	NP_000042.3:p.Ile1806SerfsTer18