Canonical Allele Identifier: CA228397177

Gene: ATM

Linked Data

• dbSNP Id: rs767623237
• MyVariant Identifiers: chr11:g.108126883_108126884del (hg19) ; chr11:g.108256156_108256157del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108256157_108256158del , CM000673.2:g.108256157_108256158del	GRCh38
NC_000011.9:g.108126884_108126885del , CM000673.1:g.108126884_108126885del	GRCh37
NC_000011.8:g.107632094_107632095del	NCBI36
NG_009830.1:g.38326_38327del , LRG_135:g.38326_38327del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2125-58_2125-57del	ENSP00000388058.2:n.2125-58_2125-57del
ENST00000713593.1:c.*1596-58_*1596-57del	ENSP00000518889.1:n.*1596-58_*1596-57del
ENST00000278616.9:c.2125-58_2125-57del	ENSP00000278616.4:n.2125-58_2125-57del
ENST00000682516.1:n.2259-58_2259-57del
ENST00000683174.1:n.2275-58_2275-57del
ENST00000683605.1:n.1620-58_1620-57del
ENST00000684037.1:c.*1060-58_*1060-57del	ENSP00000508245.1:n.*1060-58_*1060-57del
ENST00000684061.1:n.2259-58_2259-57del
ENST00000527805.6:c.2125-58_2125-57del	ENSP00000435747.2:n.2125-58_2125-57del
ENST00000675595.1:c.1960-58_1960-57del	ENSP00000502563.1:n.1960-58_1960-57del
ENST00000675843.1:c.2125-58_2125-57del MANE Select	ENSP00000501606.1:n.2125-58_2125-57del
ENST00000278616.8:c.2125-58_2125-57del	ENSP00000278616.4:n.2125-58_2125-57del
ENST00000452508.6:c.2125-58_2125-57del	ENSP00000388058.2:n.2125-58_2125-57del
ENST00000527805.5:c.2125-58_2125-57del	ENSP00000435747.1:n.2125-58_2125-57del
NM_000051.3:c.2125-58_2125-57del , LRG_135t1:c.2125-58_2125-57del	NP_000042.3:n.2125-58_2125-57del
XM_005271561.3:c.2125-58_2125-57del	XP_005271618.2:n.2125-58_2125-57del
XM_005271562.3:c.2125-58_2125-57del	XP_005271619.2:n.2125-58_2125-57del
XM_006718843.2:c.2125-58_2125-57del	XP_006718906.1:n.2125-58_2125-57del
XM_011542840.1:c.2125-58_2125-57del	XP_011541142.1:n.2125-58_2125-57del
XM_011542841.1:c.2125-58_2125-57del	XP_011541143.1:n.2125-58_2125-57del
XM_011542842.1:c.1960-58_1960-57del	XP_011541144.1:n.1960-58_1960-57del
XM_011542843.1:c.2125-58_2125-57del	XP_011541145.1:n.2125-58_2125-57del
XM_011542844.1:c.1081-58_1081-57del	XP_011541146.1:n.1081-58_1081-57del
XM_011542845.1:c.817-58_817-57del	XP_011541147.1:n.817-58_817-57del
XM_011542846.1:c.2125-58_2125-57del	XP_011541148.1:n.2125-58_2125-57del
NM_001351834.1:c.2125-58_2125-57del	NP_001338763.1:n.2125-58_2125-57del
XM_005271562.5:c.2125-58_2125-57del	XP_005271619.2:n.2125-58_2125-57del
XM_006718843.4:c.2125-58_2125-57del	XP_006718906.1:n.2125-58_2125-57del
XM_011542840.3:c.2125-58_2125-57del	XP_011541142.1:n.2125-58_2125-57del
XM_011542842.3:c.1960-58_1960-57del	XP_011541144.1:n.1960-58_1960-57del
XM_011542843.2:c.2125-58_2125-57del	XP_011541145.1:n.2125-58_2125-57del
XM_011542844.3:c.1081-58_1081-57del	XP_011541146.1:n.1081-58_1081-57del
XM_011542845.2:c.817-58_817-57del	XP_011541147.1:n.817-58_817-57del
XM_017017789.2:c.2125-58_2125-57del	XP_016873278.1:n.2125-58_2125-57del
XM_017017790.2:c.2125-58_2125-57del	XP_016873279.1:n.2125-58_2125-57del
XM_017017791.1:c.2125-58_2125-57del	XP_016873280.1:n.2125-58_2125-57del
XM_017017792.2:c.2125-58_2125-57del	XP_016873281.1:n.2125-58_2125-57del
XR_002957150.1:n.2858-58_2858-57del
NM_001351834.2:c.2125-58_2125-57del	NP_001338763.1:n.2125-58_2125-57del
NM_000051.4:c.2125-58_2125-57del MANE Select	NP_000042.3:n.2125-58_2125-57del