Canonical Allele Identifier: CA1998767357

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247057_108247060delinsATTC , CM000673.2:g.108247057_108247060delinsATTC	GRCh38
NC_000011.9:g.108117784_108117787delinsATTC , CM000673.1:g.108117784_108117787delinsATTC	GRCh37
NC_000011.8:g.107622994_107622997delinsATTC	NCBI36
NG_009830.1:g.29226_29229delinsATTC , LRG_135:g.29226_29229delinsATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.995_998delinsATTC	ENSP00000388058.2:p.Tyr332=
ENST00000713593.1:c.*466_*469delinsATTC	ENSP00000518889.1:n.*466_*469delinsATTC
ENST00000278616.9:c.995_998delinsATTC	ENSP00000278616.4:p.Tyr332=
ENST00000682516.1:n.1129_1132delinsATTC
ENST00000682956.1:n.1129_1132delinsATTC
ENST00000683100.1:n.3342_3345delinsATTC
ENST00000683174.1:n.1145_1148delinsATTC
ENST00000683605.1:n.490_493delinsATTC
ENST00000684037.1:c.995_998delinsATTC	ENSP00000508245.1:p.Tyr332=
ENST00000684061.1:n.1129_1132delinsATTC
ENST00000684179.1:n.964_967delinsATTC
ENST00000527805.6:c.995_998delinsATTC	ENSP00000435747.2:p.Tyr332=
ENST00000675595.1:c.830_833delinsATTC	ENSP00000502563.1:p.Tyr277=
ENST00000675843.1:c.995_998delinsATTC MANE Select	ENSP00000501606.1:p.Tyr332=
ENST00000278616.8:c.995_998delinsATTC	ENSP00000278616.4:p.Tyr332=
ENST00000452508.6:c.995_998delinsATTC	ENSP00000388058.2:p.Tyr332=
ENST00000527805.5:c.995_998delinsATTC	ENSP00000435747.1:p.Tyr332=
NM_000051.3:c.995_998delinsATTC , LRG_135t1:c.995_998delinsATTC	NP_000042.3:p.Tyr332=
XM_005271561.3:c.995_998delinsATTC	XP_005271618.2:p.Tyr332=
XM_005271562.3:c.995_998delinsATTC	XP_005271619.2:p.Tyr332=
XM_006718843.2:c.995_998delinsATTC	XP_006718906.1:p.Tyr332=
XM_011542840.1:c.995_998delinsATTC	XP_011541142.1:p.Tyr332=
XM_011542841.1:c.995_998delinsATTC	XP_011541143.1:p.Tyr332=
XM_011542842.1:c.830_833delinsATTC	XP_011541144.1:p.Tyr277=
XM_011542843.1:c.995_998delinsATTC	XP_011541145.1:p.Tyr332=
XM_011542844.1:c.-50_-47delinsATTC	XP_011541146.1:n.-50_-47delinsATTC
XM_011542845.1:c.-144_-141delinsATTC	XP_011541147.1:n.-144_-141delinsATTC
XM_011542846.1:c.995_998delinsATTC	XP_011541148.1:p.Tyr332=
NM_001351834.1:c.995_998delinsATTC	NP_001338763.1:p.Tyr332=
XM_005271562.5:c.995_998delinsATTC	XP_005271619.2:p.Tyr332=
XM_006718843.4:c.995_998delinsATTC	XP_006718906.1:p.Tyr332=
XM_011542840.3:c.995_998delinsATTC	XP_011541142.1:p.Tyr332=
XM_011542842.3:c.830_833delinsATTC	XP_011541144.1:p.Tyr277=
XM_011542843.2:c.995_998delinsATTC	XP_011541145.1:p.Tyr332=
XM_011542844.3:c.-50_-47delinsATTC	XP_011541146.1:n.-50_-47delinsATTC
XM_011542845.2:c.-144_-141delinsATTC	XP_011541147.1:n.-144_-141delinsATTC
XM_017017789.2:c.995_998delinsATTC	XP_016873278.1:p.Tyr332=
XM_017017790.2:c.995_998delinsATTC	XP_016873279.1:p.Tyr332=
XM_017017791.1:c.995_998delinsATTC	XP_016873280.1:p.Tyr332=
XM_017017792.2:c.995_998delinsATTC	XP_016873281.1:p.Tyr332=
XR_002957150.1:n.1728_1731delinsATTC
NM_001351834.2:c.995_998delinsATTC	NP_001338763.1:p.Tyr332=
NM_000051.4:c.995_998delinsATTC MANE Select	NP_000042.3:p.Tyr332=