Canonical Allele Identifier: CA916079947

Gene: ATM

Linked Data

• ClinVar Variation Id: 839733
• ClinVar RCV Id: RCV001041564
• dbSNP Id: rs2081640268

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108272559_108272560dup , CM000673.2:g.108272559_108272560dup	GRCh38
NC_000011.9:g.108143286_108143287dup , CM000673.1:g.108143286_108143287dup	GRCh37
NC_000011.8:g.107648496_107648497dup	NCBI36
NG_009830.1:g.54728_54729dup , LRG_135:g.54728_54729dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3105_3106dup	ENSP00000388058.2:p.Phe1036TyrfsTer4
ENST00000713593.1:c.*2576_*2577dup	ENSP00000518889.1:n.*2576_*2577dup
ENST00000278616.9:c.3105_3106dup	ENSP00000278616.4:p.Phe1036TyrfsTer4
ENST00000683174.1:n.3255_3256dup
ENST00000527805.6:c.3105_3106dup	ENSP00000435747.2:p.Phe1036TyrfsTer4
ENST00000675595.1:c.2940_2941dup	ENSP00000502563.1:p.Phe981TyrfsTer4
ENST00000675843.1:c.3105_3106dup MANE Select	ENSP00000501606.1:p.Phe1036TyrfsTer4
ENST00000278616.8:c.3105_3106dup	ENSP00000278616.4:p.Phe1036TyrfsTer4
ENST00000452508.6:c.3105_3106dup	ENSP00000388058.2:p.Phe1036TyrfsTer4
ENST00000527805.5:c.3105_3106dup	ENSP00000435747.1:p.Phe1036TyrfsTer4
NM_000051.3:c.3105_3106dup , LRG_135t1:c.3105_3106dup	NP_000042.3:p.Phe1036TyrfsTer4
XM_005271561.3:c.3105_3106dup	XP_005271618.2:p.Phe1036TyrfsTer4
XM_005271562.3:c.3105_3106dup	XP_005271619.2:p.Phe1036TyrfsTer4
XM_006718843.2:c.3105_3106dup	XP_006718906.1:p.Phe1036TyrfsTer4
XM_011542840.1:c.3105_3106dup	XP_011541142.1:p.Phe1036TyrfsTer4
XM_011542841.1:c.3105_3106dup	XP_011541143.1:p.Phe1036TyrfsTer4
XM_011542842.1:c.2940_2941dup	XP_011541144.1:p.Phe981TyrfsTer4
XM_011542843.1:c.3105_3106dup	XP_011541145.1:p.Phe1036TyrfsTer4
XM_011542844.1:c.2061_2062dup	XP_011541146.1:p.Phe688TyrfsTer4
XM_011542845.1:c.1797_1798dup	XP_011541147.1:p.Phe600TyrfsTer4
XM_011542846.1:c.3105_3106dup	XP_011541148.1:p.Phe1036TyrfsTer4
NM_001351834.1:c.3105_3106dup	NP_001338763.1:p.Phe1036TyrfsTer4
XM_005271562.5:c.3105_3106dup	XP_005271619.2:p.Phe1036TyrfsTer4
XM_006718843.4:c.3105_3106dup	XP_006718906.1:p.Phe1036TyrfsTer4
XM_011542840.3:c.3105_3106dup	XP_011541142.1:p.Phe1036TyrfsTer4
XM_011542842.3:c.2940_2941dup	XP_011541144.1:p.Phe981TyrfsTer4
XM_011542843.2:c.3105_3106dup	XP_011541145.1:p.Phe1036TyrfsTer4
XM_011542844.3:c.2061_2062dup	XP_011541146.1:p.Phe688TyrfsTer4
XM_011542845.2:c.1797_1798dup	XP_011541147.1:p.Phe600TyrfsTer4
XM_017017789.2:c.3105_3106dup	XP_016873278.1:p.Phe1036TyrfsTer4
XM_017017790.2:c.3105_3106dup	XP_016873279.1:p.Phe1036TyrfsTer4
XM_017017791.1:c.3105_3106dup	XP_016873280.1:p.Phe1036TyrfsTer4
XM_017017792.2:c.3105_3106dup	XP_016873281.1:p.Phe1036TyrfsTer4
XR_002957150.1:n.3838_3839dup
NM_001351834.2:c.3105_3106dup	NP_001338763.1:p.Phe1036TyrfsTer4
NM_000051.4:c.3105_3106dup MANE Select	NP_000042.3:p.Phe1036TyrfsTer4