Canonical Allele Identifier: CA1998774934

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108256254_108256261delinsTTGGTGGG , CM000673.2:g.108256254_108256261delinsTTGGTGGG	GRCh38
NC_000011.9:g.108126981_108126988delinsTTGGTGGG , CM000673.1:g.108126981_108126988delinsTTGGTGGG	GRCh37
NC_000011.8:g.107632191_107632198delinsTTGGTGGG	NCBI36
NG_009830.1:g.38423_38430delinsTTGGTGGG , LRG_135:g.38423_38430delinsTTGGTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2164_2171delinsTTGGTGGG	ENSP00000388058.2:p.Leu722=
ENST00000713593.1:c.*1635_*1642delinsTTGGTGGG	ENSP00000518889.1:n.*1635_*1642delinsTTGG...
ENST00000278616.9:c.2164_2171delinsTTGGTGGG	ENSP00000278616.4:p.Leu722=
ENST00000682516.1:n.2298_2305delinsTTGGTGGG
ENST00000683174.1:n.2314_2321delinsTTGGTGGG
ENST00000683605.1:n.1659_1666delinsTTGGTGGG
ENST00000684037.1:c.*1099_*1106delinsTTGGTGGG	ENSP00000508245.1:n.*1099_*1106delinsTTGG...
ENST00000684061.1:n.2298_2305delinsTTGGTGGG
ENST00000527805.6:c.2164_2171delinsTTGGTGGG	ENSP00000435747.2:p.Leu722=
ENST00000675595.1:c.1999_2006delinsTTGGTGGG	ENSP00000502563.1:p.Leu667=
ENST00000675843.1:c.2164_2171delinsTTGGTGGG MANE Select	ENSP00000501606.1:p.Leu722=
ENST00000278616.8:c.2164_2171delinsTTGGTGGG	ENSP00000278616.4:p.Leu722=
ENST00000452508.6:c.2164_2171delinsTTGGTGGG	ENSP00000388058.2:p.Leu722=
ENST00000527805.5:c.2164_2171delinsTTGGTGGG	ENSP00000435747.1:p.Leu722=
NM_000051.3:c.2164_2171delinsTTGGTGGG , LRG_135t1:c.2164_2171delinsTTGGTGGG	NP_000042.3:p.Leu722=
XM_005271561.3:c.2164_2171delinsTTGGTGGG	XP_005271618.2:p.Leu722=
XM_005271562.3:c.2164_2171delinsTTGGTGGG	XP_005271619.2:p.Leu722=
XM_006718843.2:c.2164_2171delinsTTGGTGGG	XP_006718906.1:p.Leu722=
XM_011542840.1:c.2164_2171delinsTTGGTGGG	XP_011541142.1:p.Leu722=
XM_011542841.1:c.2164_2171delinsTTGGTGGG	XP_011541143.1:p.Leu722=
XM_011542842.1:c.1999_2006delinsTTGGTGGG	XP_011541144.1:p.Leu667=
XM_011542843.1:c.2164_2171delinsTTGGTGGG	XP_011541145.1:p.Leu722=
XM_011542844.1:c.1120_1127delinsTTGGTGGG	XP_011541146.1:p.Leu374=
XM_011542845.1:c.856_863delinsTTGGTGGG	XP_011541147.1:p.Leu286=
XM_011542846.1:c.2164_2171delinsTTGGTGGG	XP_011541148.1:p.Leu722=
NM_001351834.1:c.2164_2171delinsTTGGTGGG	NP_001338763.1:p.Leu722=
XM_005271562.5:c.2164_2171delinsTTGGTGGG	XP_005271619.2:p.Leu722=
XM_006718843.4:c.2164_2171delinsTTGGTGGG	XP_006718906.1:p.Leu722=
XM_011542840.3:c.2164_2171delinsTTGGTGGG	XP_011541142.1:p.Leu722=
XM_011542842.3:c.1999_2006delinsTTGGTGGG	XP_011541144.1:p.Leu667=
XM_011542843.2:c.2164_2171delinsTTGGTGGG	XP_011541145.1:p.Leu722=
XM_011542844.3:c.1120_1127delinsTTGGTGGG	XP_011541146.1:p.Leu374=
XM_011542845.2:c.856_863delinsTTGGTGGG	XP_011541147.1:p.Leu286=
XM_017017789.2:c.2164_2171delinsTTGGTGGG	XP_016873278.1:p.Leu722=
XM_017017790.2:c.2164_2171delinsTTGGTGGG	XP_016873279.1:p.Leu722=
XM_017017791.1:c.2164_2171delinsTTGGTGGG	XP_016873280.1:p.Leu722=
XM_017017792.2:c.2164_2171delinsTTGGTGGG	XP_016873281.1:p.Leu722=
XR_002957150.1:n.2897_2904delinsTTGGTGGG
NM_001351834.2:c.2164_2171delinsTTGGTGGG	NP_001338763.1:p.Leu722=
NM_000051.4:c.2164_2171delinsTTGGTGGG MANE Select	NP_000042.3:p.Leu722=