Canonical Allele Identifier: CA915947719

Gene: ATM

Linked Data

• ClinVar Variation Id: 826388
• ClinVar RCV Id: RCV001025236 ; RCV001383263 ; RCV003467685
• dbSNP Id: rs786204543

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244096dup , CM000673.2:g.108244096dup	GRCh38
NC_000011.9:g.108114823dup , CM000673.1:g.108114823dup	GRCh37
NC_000011.8:g.107620033dup	NCBI36
NG_009830.1:g.26265dup , LRG_135:g.26265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.640dup	ENSP00000388058.2:p.Ser214PhefsTer?
ENST00000713593.1:c.*111dup	ENSP00000518889.1:n.*111dup
ENST00000278616.9:c.640dup	ENSP00000278616.4:p.Ser214PhefsTer?
ENST00000682430.1:n.739dup
ENST00000682516.1:n.774dup
ENST00000682956.1:n.774dup
ENST00000683100.1:n.2318dup
ENST00000683174.1:n.790dup
ENST00000683605.1:n.135dup
ENST00000684037.1:c.640dup	ENSP00000508245.1:p.Ser214PhefsTer?
ENST00000684061.1:n.774dup
ENST00000684179.1:n.609dup
ENST00000527805.6:c.640dup	ENSP00000435747.2:p.Ser214PhefsTer?
ENST00000675595.1:c.475dup	ENSP00000502563.1:p.Ser159PhefsTer?
ENST00000675843.1:c.640dup MANE Select	ENSP00000501606.1:p.Ser214PhefsTer?
ENST00000278616.8:c.640dup	ENSP00000278616.4:p.Ser214PhefsTer?
ENST00000452508.6:c.640dup	ENSP00000388058.2:p.Ser214PhefsTer?
ENST00000527805.5:c.640dup	ENSP00000435747.1:p.Ser214PhefsTer?
NM_000051.3:c.640dup , LRG_135t1:c.640dup	NP_000042.3:p.Ser214PhefsTer?
XM_005271561.3:c.640dup	XP_005271618.2:p.Ser214PhefsTer?
XM_005271562.3:c.640dup	XP_005271619.2:p.Ser214PhefsTer?
XM_006718843.2:c.640dup	XP_006718906.1:p.Ser214PhefsTer?
XM_011542840.1:c.640dup	XP_011541142.1:p.Ser214PhefsTer?
XM_011542841.1:c.640dup	XP_011541143.1:p.Ser214PhefsTer?
XM_011542842.1:c.475dup	XP_011541144.1:p.Ser159PhefsTer?
XM_011542843.1:c.640dup	XP_011541145.1:p.Ser214PhefsTer?
XM_011542844.1:c.-405dup	XP_011541146.1:n.-405dup
XM_011542846.1:c.640dup	XP_011541148.1:p.Ser214PhefsTer?
NM_001351834.1:c.640dup	NP_001338763.1:p.Ser214PhefsTer?
XM_005271562.5:c.640dup	XP_005271619.2:p.Ser214PhefsTer?
XM_006718843.4:c.640dup	XP_006718906.1:p.Ser214PhefsTer?
XM_011542840.3:c.640dup	XP_011541142.1:p.Ser214PhefsTer?
XM_011542842.3:c.475dup	XP_011541144.1:p.Ser159PhefsTer?
XM_011542843.2:c.640dup	XP_011541145.1:p.Ser214PhefsTer?
XM_011542844.3:c.-405dup	XP_011541146.1:n.-405dup
XM_017017789.2:c.640dup	XP_016873278.1:p.Ser214PhefsTer?
XM_017017790.2:c.640dup	XP_016873279.1:p.Ser214PhefsTer?
XM_017017791.1:c.640dup	XP_016873280.1:p.Ser214PhefsTer?
XM_017017792.2:c.640dup	XP_016873281.1:p.Ser214PhefsTer?
XR_002957150.1:n.1373dup
NM_001351834.2:c.640dup	NP_001338763.1:p.Ser214PhefsTer?
NM_000051.4:c.640dup MANE Select	NP_000042.3:p.Ser214PhefsTer?