Canonical Allele Identifier: CA1139662320

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108303002_108303003delinsAT , CM000673.2:g.108303002_108303003delinsAT	GRCh38
NC_000011.9:g.108173729_108173730delinsAT , CM000673.1:g.108173729_108173730delinsAT	GRCh37
NC_000011.8:g.107678939_107678940delinsAT	NCBI36
NG_009830.1:g.85171_85172delinsAT , LRG_135:g.85171_85172delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.5469_5470delinsAT MANE Select	NP_000042.3:p.Leu1824Phe
ENST00000675843.1:c.5469_5470delinsAT MANE Select	ENSP00000501606.1:p.Leu1824Phe
NM_000051.3:c.5469_5470delinsAT , LRG_135t1:c.5469_5470delinsAT	NP_000042.3:p.Leu1824Phe
NM_001351834.1:c.5469_5470delinsAT	NP_001338763.1:p.Leu1824Phe
NM_001351834.2:c.5469_5470delinsAT	NP_001338763.1:p.Leu1824Phe
ENST00000278616.8:c.5469_5470delinsAT	ENSP00000278616.4:p.Leu1824Phe
ENST00000278616.9:c.5469_5470delinsAT	ENSP00000278616.4:p.Leu1824Phe
ENST00000452508.6:c.5469_5470delinsAT	ENSP00000388058.2:p.Leu1824Phe
ENST00000452508.7:c.5469_5470delinsAT	ENSP00000388058.2:p.Leu1824Phe
ENST00000524792.5:n.1684_1685delinsAT
ENST00000527805.6:c.*533_*534delinsAT	ENSP00000435747.2:n.*533_*534delinsAT
ENST00000533690.5:n.873_874delinsAT
ENST00000534625.1:n.698_699delinsAT
ENST00000675595.1:c.*533_*534delinsAT	ENSP00000502563.1:n.*533_*534delinsAT
ENST00000683174.1:n.6953_6954delinsAT
ENST00000683524.1:n.693_694delinsAT
ENST00000684152.1:n.1183_1184delinsAT
ENST00000713593.1:c.*4940_*4941delinsAT	ENSP00000518889.1:n.*4940_*4941delinsAT
XM_005271561.3:c.5469_5470delinsAT	XP_005271618.2:p.Leu1824Phe
XM_005271562.3:c.5469_5470delinsAT	XP_005271619.2:p.Leu1824Phe
XM_005271562.5:c.5469_5470delinsAT	XP_005271619.2:p.Leu1824Phe
XM_006718843.2:c.5469_5470delinsAT	XP_006718906.1:p.Leu1824Phe
XM_006718843.4:c.5469_5470delinsAT	XP_006718906.1:p.Leu1824Phe
XM_006718845.1:c.1425_1426delinsAT	XP_006718908.1:p.Leu476Phe
XM_006718845.2:c.1425_1426delinsAT	XP_006718908.1:p.Leu476Phe
XM_011542840.1:c.5469_5470delinsAT	XP_011541142.1:p.Leu1824Phe
XM_011542840.3:c.5469_5470delinsAT	XP_011541142.1:p.Leu1824Phe
XM_011542841.1:c.5469_5470delinsAT	XP_011541143.1:p.Leu1824Phe
XM_011542842.1:c.5304_5305delinsAT	XP_011541144.1:p.Leu1769Phe
XM_011542842.3:c.5304_5305delinsAT	XP_011541144.1:p.Leu1769Phe
XM_011542843.1:c.5469_5470delinsAT	XP_011541145.1:p.Leu1824Phe
XM_011542843.2:c.5469_5470delinsAT	XP_011541145.1:p.Leu1824Phe
XM_011542844.1:c.4425_4426delinsAT	XP_011541146.1:p.Leu1476Phe
XM_011542844.3:c.4425_4426delinsAT	XP_011541146.1:p.Leu1476Phe
XM_011542845.1:c.4161_4162delinsAT	XP_011541147.1:p.Leu1388Phe
XM_011542845.2:c.4161_4162delinsAT	XP_011541147.1:p.Leu1388Phe
XM_011542847.1:c.540_541delinsAT	XP_011541149.1:p.Leu181Phe
XM_017017789.2:c.5469_5470delinsAT	XP_016873278.1:p.Leu1824Phe
XM_017017790.2:c.5469_5470delinsAT	XP_016873279.1:p.Leu1824Phe
XM_017017791.1:c.5469_5470delinsAT	XP_016873280.1:p.Leu1824Phe
XR_002957150.1:n.6069_6070delinsAT