Canonical Allele Identifier: CA2725000448

Gene: ATM

Linked Data

• dbSNP Id: rs2079879604

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108246997_108246998insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.108246997_108246998insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.108117724_108117725insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.108117724_108117725insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.107622934_107622935insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_009830.1:g.29166_29167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_135:g.29166_29167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000388058.2:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
ENST00000713593.1:c.*406_*407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000518889.1:n.*406_*407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000278616.9:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000278616.4:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
ENST00000682516.1:n.1069_1070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000682956.1:n.1069_1070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683100.1:n.3282_3283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683174.1:n.1085_1086insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683605.1:n.430_431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000684037.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508245.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
ENST00000684061.1:n.1069_1070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000684179.1:n.904_905insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000527805.6:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000435747.2:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
ENST00000675595.1:c.770_771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502563.1:p.Ile256_Leu257insPhePhePhePhePhePhePhePheP...
ENST00000675843.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000501606.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
ENST00000278616.8:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000278616.4:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
ENST00000452508.6:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000388058.2:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
ENST00000527805.5:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000435747.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePheP...
NM_000051.3:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_135t1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000042.3:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePheP...
XM_005271561.3:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005271618.2:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_005271562.3:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005271619.2:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_006718843.2:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006718906.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_011542840.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541142.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_011542841.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541143.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_011542842.1:c.770_771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541144.1:p.Ile256_Leu257insPhePhePhePhePhePhePhePhePheP...
XM_011542843.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541145.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_011542844.1:c.-110_-109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541146.1:n.-110_-109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011542846.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541148.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
NM_001351834.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001338763.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_005271562.5:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005271619.2:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_006718843.4:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006718906.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_011542840.3:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541142.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_011542842.3:c.770_771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541144.1:p.Ile256_Leu257insPhePhePhePhePhePhePhePhePheP...
XM_011542843.2:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541145.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_011542844.3:c.-110_-109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011541146.1:n.-110_-109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017789.2:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873278.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_017017790.2:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873279.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_017017791.1:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873280.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XM_017017792.2:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873281.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
XR_002957150.1:n.1668_1669insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001351834.2:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001338763.1:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePheP...
NM_000051.4:c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000042.3:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePheP...