Canonical Allele Identifier: CA2825001781

Gene: ATM

Linked Data

• ClinVar Variation Id: 3232279
• ClinVar RCV Id: RCV004520962

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253956_108253957delinsCT , CM000673.2:g.108253956_108253957delinsCT	GRCh38
NC_000011.9:g.108124683_108124684delinsCT , CM000673.1:g.108124683_108124684delinsCT	GRCh37
NC_000011.8:g.107629893_107629894delinsCT	NCBI36
NG_009830.1:g.36125_36126delinsCT , LRG_135:g.36125_36126delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2041_2042delinsCT	ENSP00000388058.2:p.Ser681Leu
ENST00000713593.1:c.*1512_*1513delinsCT	ENSP00000518889.1:n.*1512_*1513delinsCT
ENST00000278616.9:c.2041_2042delinsCT	ENSP00000278616.4:p.Ser681Leu
ENST00000682516.1:n.2175_2176delinsCT
ENST00000683174.1:n.2191_2192delinsCT
ENST00000683605.1:n.1536_1537delinsCT
ENST00000684037.1:c.*976_*977delinsCT	ENSP00000508245.1:n.*976_*977delinsCT
ENST00000684061.1:n.2175_2176delinsCT
ENST00000527805.6:c.2041_2042delinsCT	ENSP00000435747.2:p.Ser681Leu
ENST00000675595.1:c.1876_1877delinsCT	ENSP00000502563.1:p.Ser626Leu
ENST00000675843.1:c.2041_2042delinsCT MANE Select	ENSP00000501606.1:p.Ser681Leu
ENST00000278616.8:c.2041_2042delinsCT	ENSP00000278616.4:p.Ser681Leu
ENST00000452508.6:c.2041_2042delinsCT	ENSP00000388058.2:p.Ser681Leu
ENST00000525012.5:n.218_219delinsCT
ENST00000527805.5:c.2041_2042delinsCT	ENSP00000435747.1:p.Ser681Leu
ENST00000533526.1:n.194_195delinsCT
NM_000051.3:c.2041_2042delinsCT , LRG_135t1:c.2041_2042delinsCT	NP_000042.3:p.Ser681Leu
XM_005271561.3:c.2041_2042delinsCT	XP_005271618.2:p.Ser681Leu
XM_005271562.3:c.2041_2042delinsCT	XP_005271619.2:p.Ser681Leu
XM_006718843.2:c.2041_2042delinsCT	XP_006718906.1:p.Ser681Leu
XM_011542840.1:c.2041_2042delinsCT	XP_011541142.1:p.Ser681Leu
XM_011542841.1:c.2041_2042delinsCT	XP_011541143.1:p.Ser681Leu
XM_011542842.1:c.1876_1877delinsCT	XP_011541144.1:p.Ser626Leu
XM_011542843.1:c.2041_2042delinsCT	XP_011541145.1:p.Ser681Leu
XM_011542844.1:c.997_998delinsCT	XP_011541146.1:p.Ser333Leu
XM_011542845.1:c.733_734delinsCT	XP_011541147.1:p.Ser245Leu
XM_011542846.1:c.2041_2042delinsCT	XP_011541148.1:p.Ser681Leu
NM_001351834.1:c.2041_2042delinsCT	NP_001338763.1:p.Ser681Leu
XM_005271562.5:c.2041_2042delinsCT	XP_005271619.2:p.Ser681Leu
XM_006718843.4:c.2041_2042delinsCT	XP_006718906.1:p.Ser681Leu
XM_011542840.3:c.2041_2042delinsCT	XP_011541142.1:p.Ser681Leu
XM_011542842.3:c.1876_1877delinsCT	XP_011541144.1:p.Ser626Leu
XM_011542843.2:c.2041_2042delinsCT	XP_011541145.1:p.Ser681Leu
XM_011542844.3:c.997_998delinsCT	XP_011541146.1:p.Ser333Leu
XM_011542845.2:c.733_734delinsCT	XP_011541147.1:p.Ser245Leu
XM_017017789.2:c.2041_2042delinsCT	XP_016873278.1:p.Ser681Leu
XM_017017790.2:c.2041_2042delinsCT	XP_016873279.1:p.Ser681Leu
XM_017017791.1:c.2041_2042delinsCT	XP_016873280.1:p.Ser681Leu
XM_017017792.2:c.2041_2042delinsCT	XP_016873281.1:p.Ser681Leu
XR_002957150.1:n.2774_2775delinsCT
NM_001351834.2:c.2041_2042delinsCT	NP_001338763.1:p.Ser681Leu
NM_000051.4:c.2041_2042delinsCT MANE Select	NP_000042.3:p.Ser681Leu