Canonical Allele Identifier: CA6264947

Gene: ATM

Linked Data

• dbSNP Id: rs759384638
• ExAC: 11:108126908 A / AAT
• gnomAD v2: 11-108126908-A-AAT
• gnomAD v4: 11-108256181-A-AAT
• MyVariant Identifiers: chr11:g.108126908_108126909insAT (hg19) ; chr11:g.108256181_108256182insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108256190_108256191dup , CM000673.2:g.108256190_108256191dup	GRCh38
NC_000011.9:g.108126917_108126918dup , CM000673.1:g.108126917_108126918dup	GRCh37
NC_000011.8:g.107632127_107632128dup	NCBI36
NG_009830.1:g.38359_38360dup , LRG_135:g.38359_38360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2125-25_2125-24dup	ENSP00000388058.2:n.2125-25_2125-24dup
ENST00000713593.1:c.*1596-25_*1596-24dup	ENSP00000518889.1:n.*1596-25_*1596-24dup
ENST00000278616.9:c.2125-25_2125-24dup	ENSP00000278616.4:n.2125-25_2125-24dup
ENST00000682516.1:n.2259-25_2259-24dup
ENST00000683174.1:n.2275-25_2275-24dup
ENST00000683605.1:n.1620-25_1620-24dup
ENST00000684037.1:c.*1060-25_*1060-24dup	ENSP00000508245.1:n.*1060-25_*1060-24dup
ENST00000684061.1:n.2259-25_2259-24dup
ENST00000527805.6:c.2125-25_2125-24dup	ENSP00000435747.2:n.2125-25_2125-24dup
ENST00000675595.1:c.1960-25_1960-24dup	ENSP00000502563.1:n.1960-25_1960-24dup
ENST00000675843.1:c.2125-25_2125-24dup MANE Select	ENSP00000501606.1:n.2125-25_2125-24dup
ENST00000278616.8:c.2125-25_2125-24dup	ENSP00000278616.4:n.2125-25_2125-24dup
ENST00000452508.6:c.2125-25_2125-24dup	ENSP00000388058.2:n.2125-25_2125-24dup
ENST00000527805.5:c.2125-25_2125-24dup	ENSP00000435747.1:n.2125-25_2125-24dup
NM_000051.3:c.2125-25_2125-24dup , LRG_135t1:c.2125-25_2125-24dup	NP_000042.3:n.2125-25_2125-24dup
XM_005271561.3:c.2125-25_2125-24dup	XP_005271618.2:n.2125-25_2125-24dup
XM_005271562.3:c.2125-25_2125-24dup	XP_005271619.2:n.2125-25_2125-24dup
XM_006718843.2:c.2125-25_2125-24dup	XP_006718906.1:n.2125-25_2125-24dup
XM_011542840.1:c.2125-25_2125-24dup	XP_011541142.1:n.2125-25_2125-24dup
XM_011542841.1:c.2125-25_2125-24dup	XP_011541143.1:n.2125-25_2125-24dup
XM_011542842.1:c.1960-25_1960-24dup	XP_011541144.1:n.1960-25_1960-24dup
XM_011542843.1:c.2125-25_2125-24dup	XP_011541145.1:n.2125-25_2125-24dup
XM_011542844.1:c.1081-25_1081-24dup	XP_011541146.1:n.1081-25_1081-24dup
XM_011542845.1:c.817-25_817-24dup	XP_011541147.1:n.817-25_817-24dup
XM_011542846.1:c.2125-25_2125-24dup	XP_011541148.1:n.2125-25_2125-24dup
NM_001351834.1:c.2125-25_2125-24dup	NP_001338763.1:n.2125-25_2125-24dup
XM_005271562.5:c.2125-25_2125-24dup	XP_005271619.2:n.2125-25_2125-24dup
XM_006718843.4:c.2125-25_2125-24dup	XP_006718906.1:n.2125-25_2125-24dup
XM_011542840.3:c.2125-25_2125-24dup	XP_011541142.1:n.2125-25_2125-24dup
XM_011542842.3:c.1960-25_1960-24dup	XP_011541144.1:n.1960-25_1960-24dup
XM_011542843.2:c.2125-25_2125-24dup	XP_011541145.1:n.2125-25_2125-24dup
XM_011542844.3:c.1081-25_1081-24dup	XP_011541146.1:n.1081-25_1081-24dup
XM_011542845.2:c.817-25_817-24dup	XP_011541147.1:n.817-25_817-24dup
XM_017017789.2:c.2125-25_2125-24dup	XP_016873278.1:n.2125-25_2125-24dup
XM_017017790.2:c.2125-25_2125-24dup	XP_016873279.1:n.2125-25_2125-24dup
XM_017017791.1:c.2125-25_2125-24dup	XP_016873280.1:n.2125-25_2125-24dup
XM_017017792.2:c.2125-25_2125-24dup	XP_016873281.1:n.2125-25_2125-24dup
XR_002957150.1:n.2858-25_2858-24dup
NM_001351834.2:c.2125-25_2125-24dup	NP_001338763.1:n.2125-25_2125-24dup
NM_000051.4:c.2125-25_2125-24dup MANE Select	NP_000042.3:n.2125-25_2125-24dup