Canonical Allele Identifier: CA193873

Gene: ATM

Linked Data

• ClinVar Variation Id: 186102
• ClinVar RCV Id: RCV000165632 ; RCV004019979
• dbSNP Id: rs786202694
• MyVariant Identifiers: chr11:g.108154987dupG (hg19) ; chr11:g.108284260dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108284260dup , CM000673.2:g.108284260dup	GRCh38
NC_000011.9:g.108154987dup , CM000673.1:g.108154987dup	GRCh37
NC_000011.8:g.107660197dup	NCBI36
NG_009830.1:g.66429dup , LRG_135:g.66429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3780dup	ENSP00000388058.2:p.Ile1261AspfsTer2
ENST00000713593.1:c.*3251dup	ENSP00000518889.1:n.*3251dup
ENST00000278616.9:c.3780dup	ENSP00000278616.4:p.Ile1261AspfsTer2
ENST00000682289.1:n.127dup
ENST00000683174.1:n.3930dup
ENST00000527805.6:c.3780dup	ENSP00000435747.2:p.Ile1261AspfsTer2
ENST00000675595.1:c.3615dup	ENSP00000502563.1:p.Ile1206AspfsTer2
ENST00000675843.1:c.3780dup MANE Select	ENSP00000501606.1:p.Ile1261AspfsTer2
ENST00000278616.8:c.3780dup	ENSP00000278616.4:p.Ile1261AspfsTer2
ENST00000452508.6:c.3780dup	ENSP00000388058.2:p.Ile1261AspfsTer2
ENST00000527805.5:c.3780dup	ENSP00000435747.1:p.Ile1261AspfsTer2
NM_000051.3:c.3780dup , LRG_135t1:c.3780dup	NP_000042.3:p.Ile1261AspfsTer2
XM_005271561.3:c.3780dup	XP_005271618.2:p.Ile1261AspfsTer2
XM_005271562.3:c.3780dup	XP_005271619.2:p.Ile1261AspfsTer2
XM_006718843.2:c.3780dup	XP_006718906.1:p.Ile1261AspfsTer2
XM_011542840.1:c.3780dup	XP_011541142.1:p.Ile1261AspfsTer2
XM_011542841.1:c.3780dup	XP_011541143.1:p.Ile1261AspfsTer2
XM_011542842.1:c.3615dup	XP_011541144.1:p.Ile1206AspfsTer2
XM_011542843.1:c.3780dup	XP_011541145.1:p.Ile1261AspfsTer2
XM_011542844.1:c.2736dup	XP_011541146.1:p.Ile913AspfsTer2
XM_011542845.1:c.2472dup	XP_011541147.1:p.Ile825AspfsTer2
XM_011542846.1:c.3780dup	XP_011541148.1:p.Ile1261AspfsTer2
NM_001351834.1:c.3780dup	NP_001338763.1:p.Ile1261AspfsTer2
XM_005271562.5:c.3780dup	XP_005271619.2:p.Ile1261AspfsTer2
XM_006718843.4:c.3780dup	XP_006718906.1:p.Ile1261AspfsTer2
XM_011542840.3:c.3780dup	XP_011541142.1:p.Ile1261AspfsTer2
XM_011542842.3:c.3615dup	XP_011541144.1:p.Ile1206AspfsTer2
XM_011542843.2:c.3780dup	XP_011541145.1:p.Ile1261AspfsTer2
XM_011542844.3:c.2736dup	XP_011541146.1:p.Ile913AspfsTer2
XM_011542845.2:c.2472dup	XP_011541147.1:p.Ile825AspfsTer2
XM_017017789.2:c.3780dup	XP_016873278.1:p.Ile1261AspfsTer2
XM_017017790.2:c.3780dup	XP_016873279.1:p.Ile1261AspfsTer2
XM_017017791.1:c.3780dup	XP_016873280.1:p.Ile1261AspfsTer2
XM_017017792.2:c.3780dup	XP_016873281.1:p.Ile1261AspfsTer2
XR_002957150.1:n.4513dup
NM_001351834.2:c.3780dup	NP_001338763.1:p.Ile1261AspfsTer2
NM_000051.4:c.3780dup MANE Select	NP_000042.3:p.Ile1261AspfsTer2