Canonical Allele Identifier: CA942015733

Gene: ATM

Linked Data

• dbSNP Id: rs2080472545
• gnomAD v3: 11-108256218-A-AC
• gnomAD v4: 11-108256218-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108256219dup , CM000673.2:g.108256219dup	GRCh38
NC_000011.9:g.108126946dup , CM000673.1:g.108126946dup	GRCh37
NC_000011.8:g.107632156dup	NCBI36
NG_009830.1:g.38388dup , LRG_135:g.38388dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2129dup	ENSP00000388058.2:p.Asn711LysfsTer27
ENST00000713593.1:c.*1600dup	ENSP00000518889.1:n.*1600dup
ENST00000278616.9:c.2129dup	ENSP00000278616.4:p.Asn711LysfsTer27
ENST00000682516.1:n.2263dup
ENST00000683174.1:n.2279dup
ENST00000683605.1:n.1624dup
ENST00000684037.1:c.*1064dup	ENSP00000508245.1:n.*1064dup
ENST00000684061.1:n.2263dup
ENST00000527805.6:c.2129dup	ENSP00000435747.2:p.Asn711LysfsTer27
ENST00000675595.1:c.1964dup	ENSP00000502563.1:p.Asn656LysfsTer27
ENST00000675843.1:c.2129dup MANE Select	ENSP00000501606.1:p.Asn711LysfsTer27
ENST00000278616.8:c.2129dup	ENSP00000278616.4:p.Asn711LysfsTer27
ENST00000452508.6:c.2129dup	ENSP00000388058.2:p.Asn711LysfsTer27
ENST00000527805.5:c.2129dup	ENSP00000435747.1:p.Asn711LysfsTer27
NM_000051.3:c.2129dup , LRG_135t1:c.2129dup	NP_000042.3:p.Asn711LysfsTer27
XM_005271561.3:c.2129dup	XP_005271618.2:p.Asn711LysfsTer27
XM_005271562.3:c.2129dup	XP_005271619.2:p.Asn711LysfsTer27
XM_006718843.2:c.2129dup	XP_006718906.1:p.Asn711LysfsTer27
XM_011542840.1:c.2129dup	XP_011541142.1:p.Asn711LysfsTer27
XM_011542841.1:c.2129dup	XP_011541143.1:p.Asn711LysfsTer27
XM_011542842.1:c.1964dup	XP_011541144.1:p.Asn656LysfsTer27
XM_011542843.1:c.2129dup	XP_011541145.1:p.Asn711LysfsTer27
XM_011542844.1:c.1085dup	XP_011541146.1:p.Asn363LysfsTer27
XM_011542845.1:c.821dup	XP_011541147.1:p.Asn275LysfsTer27
XM_011542846.1:c.2129dup	XP_011541148.1:p.Asn711LysfsTer27
NM_001351834.1:c.2129dup	NP_001338763.1:p.Asn711LysfsTer27
XM_005271562.5:c.2129dup	XP_005271619.2:p.Asn711LysfsTer27
XM_006718843.4:c.2129dup	XP_006718906.1:p.Asn711LysfsTer27
XM_011542840.3:c.2129dup	XP_011541142.1:p.Asn711LysfsTer27
XM_011542842.3:c.1964dup	XP_011541144.1:p.Asn656LysfsTer27
XM_011542843.2:c.2129dup	XP_011541145.1:p.Asn711LysfsTer27
XM_011542844.3:c.1085dup	XP_011541146.1:p.Asn363LysfsTer27
XM_011542845.2:c.821dup	XP_011541147.1:p.Asn275LysfsTer27
XM_017017789.2:c.2129dup	XP_016873278.1:p.Asn711LysfsTer27
XM_017017790.2:c.2129dup	XP_016873279.1:p.Asn711LysfsTer27
XM_017017791.1:c.2129dup	XP_016873280.1:p.Asn711LysfsTer27
XM_017017792.2:c.2129dup	XP_016873281.1:p.Asn711LysfsTer27
XR_002957150.1:n.2862dup
NM_001351834.2:c.2129dup	NP_001338763.1:p.Asn711LysfsTer27
NM_000051.4:c.2129dup MANE Select	NP_000042.3:p.Asn711LysfsTer27