Canonical Allele Identifier: CA658656283

Gene: ATM

Linked Data

• ClinVar Variation Id: 481307
• ClinVar RCV Id: RCV000575944
• dbSNP Id: rs1555096057
• MyVariant Identifiers: chr11:g.108158428_108158429dup (hg19) ; chr11:g.108287701_108287702dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287701_108287702dup , CM000673.2:g.108287701_108287702dup	GRCh38
NC_000011.9:g.108158428_108158429dup , CM000673.1:g.108158428_108158429dup	GRCh37
NC_000011.8:g.107663638_107663639dup	NCBI36
NG_009830.1:g.69870_69871dup , LRG_135:g.69870_69871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4095_4096dup	ENSP00000388058.2:p.Cys1366SerfsTer21
ENST00000713593.1:c.*3566_*3567dup	ENSP00000518889.1:n.*3566_*3567dup
ENST00000278616.9:c.4095_4096dup	ENSP00000278616.4:p.Cys1366SerfsTer21
ENST00000533733.6:n.1358_1359dup
ENST00000683174.1:n.4245_4246dup
ENST00000527805.6:c.4095_4096dup	ENSP00000435747.2:p.Cys1366SerfsTer21
ENST00000675595.1:c.3930_3931dup	ENSP00000502563.1:p.Cys1311SerfsTer21
ENST00000675843.1:c.4095_4096dup MANE Select	ENSP00000501606.1:p.Cys1366SerfsTer21
ENST00000278616.8:c.4095_4096dup	ENSP00000278616.4:p.Cys1366SerfsTer21
ENST00000452508.6:c.4095_4096dup	ENSP00000388058.2:p.Cys1366SerfsTer21
ENST00000524792.5:n.310_311dup
ENST00000527805.5:c.4095_4096dup	ENSP00000435747.1:p.Cys1366SerfsTer?
ENST00000531525.2:c.102_103dup	ENSP00000434327.2:p.Cys35SerfsTer21
ENST00000533733.5:n.524_525dup
NM_000051.3:c.4095_4096dup , LRG_135t1:c.4095_4096dup	NP_000042.3:p.Cys1366SerfsTer21
XM_005271561.3:c.4095_4096dup	XP_005271618.2:p.Cys1366SerfsTer21
XM_005271562.3:c.4095_4096dup	XP_005271619.2:p.Cys1366SerfsTer21
XM_006718843.2:c.4095_4096dup	XP_006718906.1:p.Cys1366SerfsTer21
XM_006718845.1:c.51_52dup	XP_006718908.1:p.Cys18SerfsTer21
XM_011542840.1:c.4095_4096dup	XP_011541142.1:p.Cys1366SerfsTer21
XM_011542841.1:c.4095_4096dup	XP_011541143.1:p.Cys1366SerfsTer21
XM_011542842.1:c.3930_3931dup	XP_011541144.1:p.Cys1311SerfsTer21
XM_011542843.1:c.4095_4096dup	XP_011541145.1:p.Cys1366SerfsTer21
XM_011542844.1:c.3051_3052dup	XP_011541146.1:p.Cys1018SerfsTer21
XM_011542845.1:c.2787_2788dup	XP_011541147.1:p.Cys930SerfsTer21
XM_011542846.1:c.4095_4096dup	XP_011541148.1:p.Cys1366SerfsTer21
NM_001351834.1:c.4095_4096dup	NP_001338763.1:p.Cys1366SerfsTer21
XM_005271562.5:c.4095_4096dup	XP_005271619.2:p.Cys1366SerfsTer21
XM_006718843.4:c.4095_4096dup	XP_006718906.1:p.Cys1366SerfsTer21
XM_006718845.2:c.51_52dup	XP_006718908.1:p.Cys18SerfsTer21
XM_011542840.3:c.4095_4096dup	XP_011541142.1:p.Cys1366SerfsTer21
XM_011542842.3:c.3930_3931dup	XP_011541144.1:p.Cys1311SerfsTer21
XM_011542843.2:c.4095_4096dup	XP_011541145.1:p.Cys1366SerfsTer21
XM_011542844.3:c.3051_3052dup	XP_011541146.1:p.Cys1018SerfsTer21
XM_011542845.2:c.2787_2788dup	XP_011541147.1:p.Cys930SerfsTer21
XM_017017789.2:c.4095_4096dup	XP_016873278.1:p.Cys1366SerfsTer21
XM_017017790.2:c.4095_4096dup	XP_016873279.1:p.Cys1366SerfsTer21
XM_017017791.1:c.4095_4096dup	XP_016873280.1:p.Cys1366SerfsTer21
XM_017017792.2:c.4095_4096dup	XP_016873281.1:p.Cys1366SerfsTer21
XR_002957150.1:n.4828_4829dup
NM_001351834.2:c.4095_4096dup	NP_001338763.1:p.Cys1366SerfsTer21
NM_000051.4:c.4095_4096dup MANE Select	NP_000042.3:p.Cys1366SerfsTer21