Canonical Allele Identifier: CA382542808

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301784A>T , CM000673.2:g.108301784A>T	GRCh38
NC_000011.9:g.108172511A>T , CM000673.1:g.108172511A>T	GRCh37
NC_000011.8:g.107677721A>T	NCBI36
NG_009830.1:g.83953A>T , LRG_135:g.83953A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.5314A>T MANE Select	NP_000042.3:p.Lys1772Ter
ENST00000675843.1:c.5314A>T MANE Select	ENSP00000501606.1:p.Lys1772Ter
NM_000051.3:c.5314A>T , LRG_135t1:c.5314A>T	NP_000042.3:p.Lys1772Ter
NM_001351834.1:c.5314A>T	NP_001338763.1:p.Lys1772Ter
NM_001351834.2:c.5314A>T	NP_001338763.1:p.Lys1772Ter
ENST00000278616.8:c.5314A>T	ENSP00000278616.4:p.Lys1772Ter
ENST00000278616.9:c.5314A>T	ENSP00000278616.4:p.Lys1772Ter
ENST00000452508.6:c.5314A>T	ENSP00000388058.2:p.Lys1772Ter
ENST00000452508.7:c.5314A>T	ENSP00000388058.2:p.Lys1772Ter
ENST00000524792.5:n.1529A>T
ENST00000527805.6:c.*378A>T	ENSP00000435747.2:n.*378A>T
ENST00000533690.5:n.718A>T
ENST00000534625.1:n.543A>T
ENST00000675595.1:c.*378A>T	ENSP00000502563.1:n.*378A>T
ENST00000683174.1:n.6798A>T
ENST00000683524.1:n.538A>T
ENST00000684152.1:n.1028A>T
ENST00000713593.1:c.*4785A>T	ENSP00000518889.1:n.*4785A>T
XM_005271561.3:c.5314A>T	XP_005271618.2:p.Lys1772Ter
XM_005271562.3:c.5314A>T	XP_005271619.2:p.Lys1772Ter
XM_005271562.5:c.5314A>T	XP_005271619.2:p.Lys1772Ter
XM_006718843.2:c.5314A>T	XP_006718906.1:p.Lys1772Ter
XM_006718843.4:c.5314A>T	XP_006718906.1:p.Lys1772Ter
XM_006718845.1:c.1270A>T	XP_006718908.1:p.Lys424Ter
XM_006718845.2:c.1270A>T	XP_006718908.1:p.Lys424Ter
XM_011542840.1:c.5314A>T	XP_011541142.1:p.Lys1772Ter
XM_011542840.3:c.5314A>T	XP_011541142.1:p.Lys1772Ter
XM_011542841.1:c.5314A>T	XP_011541143.1:p.Lys1772Ter
XM_011542842.1:c.5149A>T	XP_011541144.1:p.Lys1717Ter
XM_011542842.3:c.5149A>T	XP_011541144.1:p.Lys1717Ter
XM_011542843.1:c.5314A>T	XP_011541145.1:p.Lys1772Ter
XM_011542843.2:c.5314A>T	XP_011541145.1:p.Lys1772Ter
XM_011542844.1:c.4270A>T	XP_011541146.1:p.Lys1424Ter
XM_011542844.3:c.4270A>T	XP_011541146.1:p.Lys1424Ter
XM_011542845.1:c.4006A>T	XP_011541147.1:p.Lys1336Ter
XM_011542845.2:c.4006A>T	XP_011541147.1:p.Lys1336Ter
XM_011542846.1:c.5314A>T	XP_011541148.1:p.Lys1772Ter
XM_011542847.1:c.385A>T	XP_011541149.1:p.Lys129Ter
XM_017017789.2:c.5314A>T	XP_016873278.1:p.Lys1772Ter
XM_017017790.2:c.5314A>T	XP_016873279.1:p.Lys1772Ter
XM_017017791.1:c.5314A>T	XP_016873280.1:p.Lys1772Ter
XM_017017792.2:c.5314A>T	XP_016873281.1:p.Lys1772Ter
XR_002957150.1:n.5914A>T