Canonical Allele Identifier: CA2580082988

Gene: ATM

Linked Data

• ClinVar Variation Id: 2004661
• ClinVar RCV Id: RCV002828340
• dbSNP Id: rs1591504958

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108245030T>A , CM000673.2:g.108245030T>A	GRCh38
NC_000011.9:g.108115757T>A , CM000673.1:g.108115757T>A	GRCh37
NC_000011.8:g.107620967T>A	NCBI36
NG_009830.1:g.27199T>A , LRG_135:g.27199T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.901+4T>A	ENSP00000388058.2:n.901+4T>A
ENST00000713593.1:c.*372+4T>A	ENSP00000518889.1:n.*372+4T>A
ENST00000278616.9:c.901+4T>A	ENSP00000278616.4:n.901+4T>A
ENST00000682516.1:n.1035+4T>A
ENST00000682956.1:n.1035+4T>A
ENST00000683100.1:n.3248+4T>A
ENST00000683174.1:n.1051+4T>A
ENST00000683605.1:n.396+4T>A
ENST00000684037.1:c.901+4T>A	ENSP00000508245.1:n.901+4T>A
ENST00000684061.1:n.1035+4T>A
ENST00000684179.1:n.870+4T>A
ENST00000527805.6:c.901+4T>A	ENSP00000435747.2:n.901+4T>A
ENST00000675595.1:c.736+4T>A	ENSP00000502563.1:n.736+4T>A
ENST00000675843.1:c.901+4T>A MANE Select	ENSP00000501606.1:n.901+4T>A
ENST00000278616.8:c.901+4T>A	ENSP00000278616.4:n.901+4T>A
ENST00000452508.6:c.901+4T>A	ENSP00000388058.2:n.901+4T>A
ENST00000527805.5:c.901+4T>A	ENSP00000435747.1:n.901+4T>A
NM_000051.3:c.901+4T>A , LRG_135t1:c.901+4T>A	NP_000042.3:n.901+4T>A
XM_005271561.3:c.901+4T>A	XP_005271618.2:n.901+4T>A
XM_005271562.3:c.901+4T>A	XP_005271619.2:n.901+4T>A
XM_006718843.2:c.901+4T>A	XP_006718906.1:n.901+4T>A
XM_011542840.1:c.901+4T>A	XP_011541142.1:n.901+4T>A
XM_011542841.1:c.901+4T>A	XP_011541143.1:n.901+4T>A
XM_011542842.1:c.736+4T>A	XP_011541144.1:n.736+4T>A
XM_011542843.1:c.901+4T>A	XP_011541145.1:n.901+4T>A
XM_011542844.1:c.-144+4T>A	XP_011541146.1:n.-144+4T>A
XM_011542846.1:c.901+4T>A	XP_011541148.1:n.901+4T>A
NM_001351834.1:c.901+4T>A	NP_001338763.1:n.901+4T>A
XM_005271562.5:c.901+4T>A	XP_005271619.2:n.901+4T>A
XM_006718843.4:c.901+4T>A	XP_006718906.1:n.901+4T>A
XM_011542840.3:c.901+4T>A	XP_011541142.1:n.901+4T>A
XM_011542842.3:c.736+4T>A	XP_011541144.1:n.736+4T>A
XM_011542843.2:c.901+4T>A	XP_011541145.1:n.901+4T>A
XM_011542844.3:c.-144+4T>A	XP_011541146.1:n.-144+4T>A
XM_017017789.2:c.901+4T>A	XP_016873278.1:n.901+4T>A
XM_017017790.2:c.901+4T>A	XP_016873279.1:n.901+4T>A
XM_017017791.1:c.901+4T>A	XP_016873280.1:n.901+4T>A
XM_017017792.2:c.901+4T>A	XP_016873281.1:n.901+4T>A
XR_002957150.1:n.1634+4T>A
NM_001351834.2:c.901+4T>A	NP_001338763.1:n.901+4T>A
NM_000051.4:c.901+4T>A MANE Select	NP_000042.3:n.901+4T>A