Canonical Allele Identifier: CA382547350

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108271318G>A , CM000673.2:g.108271318G>A	GRCh38
NC_000011.9:g.108142045G>A , CM000673.1:g.108142045G>A	GRCh37
NC_000011.8:g.107647255G>A	NCBI36
NG_009830.1:g.53487G>A , LRG_135:g.53487G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.2989G>A MANE Select	NP_000042.3:p.Val997Ile
ENST00000675843.1:c.2989G>A MANE Select	ENSP00000501606.1:p.Val997Ile
NM_000051.3:c.2989G>A , LRG_135t1:c.2989G>A	NP_000042.3:p.Val997Ile
NM_001351834.1:c.2989G>A	NP_001338763.1:p.Val997Ile
NM_001351834.2:c.2989G>A	NP_001338763.1:p.Val997Ile
ENST00000278616.8:c.2989G>A	ENSP00000278616.4:p.Val997Ile
ENST00000278616.9:c.2989G>A	ENSP00000278616.4:p.Val997Ile
ENST00000419286.2:n.268G>A
ENST00000452508.6:c.2989G>A	ENSP00000388058.2:p.Val997Ile
ENST00000452508.7:c.2989G>A	ENSP00000388058.2:p.Val997Ile
ENST00000527805.5:c.2989G>A	ENSP00000435747.1:p.Val997Ile
ENST00000527805.6:c.2989G>A	ENSP00000435747.2:p.Val997Ile
ENST00000675595.1:c.2824G>A	ENSP00000502563.1:p.Val942Ile
ENST00000682516.1:n.2923G>A
ENST00000683174.1:n.3139G>A
ENST00000684037.1:c.*1724G>A	ENSP00000508245.1:n.*1724G>A
ENST00000713593.1:c.*2460G>A	ENSP00000518889.1:n.*2460G>A
XM_005271561.3:c.2989G>A	XP_005271618.2:p.Val997Ile
XM_005271562.3:c.2989G>A	XP_005271619.2:p.Val997Ile
XM_005271562.5:c.2989G>A	XP_005271619.2:p.Val997Ile
XM_006718843.2:c.2989G>A	XP_006718906.1:p.Val997Ile
XM_006718843.4:c.2989G>A	XP_006718906.1:p.Val997Ile
XM_011542840.1:c.2989G>A	XP_011541142.1:p.Val997Ile
XM_011542840.3:c.2989G>A	XP_011541142.1:p.Val997Ile
XM_011542841.1:c.2989G>A	XP_011541143.1:p.Val997Ile
XM_011542842.1:c.2824G>A	XP_011541144.1:p.Val942Ile
XM_011542842.3:c.2824G>A	XP_011541144.1:p.Val942Ile
XM_011542843.1:c.2989G>A	XP_011541145.1:p.Val997Ile
XM_011542843.2:c.2989G>A	XP_011541145.1:p.Val997Ile
XM_011542844.1:c.1945G>A	XP_011541146.1:p.Val649Ile
XM_011542844.3:c.1945G>A	XP_011541146.1:p.Val649Ile
XM_011542845.1:c.1681G>A	XP_011541147.1:p.Val561Ile
XM_011542845.2:c.1681G>A	XP_011541147.1:p.Val561Ile
XM_011542846.1:c.2989G>A	XP_011541148.1:p.Val997Ile
XM_017017789.2:c.2989G>A	XP_016873278.1:p.Val997Ile
XM_017017790.2:c.2989G>A	XP_016873279.1:p.Val997Ile
XM_017017791.1:c.2989G>A	XP_016873280.1:p.Val997Ile
XM_017017792.2:c.2989G>A	XP_016873281.1:p.Val997Ile
XR_002957150.1:n.3722G>A