Canonical Allele Identifier: CA10584351

Gene: ATM

Linked Data

• ClinVar Variation Id: 246401
• ClinVar RCV Id: RCV000235566
• dbSNP Id: rs879254242
• MyVariant Identifiers: chr11:g.108175421dupA (hg19) ; chr11:g.108304694dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304694dup , CM000673.2:g.108304694dup	GRCh38
NC_000011.9:g.108175421dup , CM000673.1:g.108175421dup	GRCh37
NC_000011.8:g.107680631dup	NCBI36
NG_009830.1:g.86863dup , LRG_135:g.86863dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5516dup	ENSP00000388058.2:p.Thr1840AspfsTer9
ENST00000713593.1:c.*4987dup	ENSP00000518889.1:n.*4987dup
ENST00000278616.9:c.5516dup	ENSP00000278616.4:p.Thr1840AspfsTer9
ENST00000683174.1:n.7000dup
ENST00000683524.1:n.740dup
ENST00000684152.1:n.1230dup
ENST00000527805.6:c.*580dup	ENSP00000435747.2:n.*580dup
ENST00000675595.1:c.*580dup	ENSP00000502563.1:n.*580dup
ENST00000675843.1:c.5516dup MANE Select	ENSP00000501606.1:p.Thr1840AspfsTer9
ENST00000278616.8:c.5516dup	ENSP00000278616.4:p.Thr1840AspfsTer9
ENST00000452508.6:c.5516dup	ENSP00000388058.2:p.Thr1840AspfsTer9
ENST00000524792.5:n.1731dup
ENST00000529588.5:c.28dup
ENST00000533690.5:n.920dup
NM_000051.3:c.5516dup , LRG_135t1:c.5516dup	NP_000042.3:p.Thr1840AspfsTer9
XM_005271561.3:c.5516dup	XP_005271618.2:p.Thr1840AspfsTer9
XM_005271562.3:c.5516dup	XP_005271619.2:p.Thr1840AspfsTer9
XM_006718843.2:c.5516dup	XP_006718906.1:p.Thr1840AspfsTer9
XM_006718845.1:c.1472dup	XP_006718908.1:p.Thr492AspfsTer9
XM_011542840.1:c.5516dup	XP_011541142.1:p.Thr1840AspfsTer9
XM_011542841.1:c.5516dup	XP_011541143.1:p.Thr1840AspfsTer9
XM_011542842.1:c.5351dup	XP_011541144.1:p.Thr1785AspfsTer9
XM_011542843.1:c.5516dup	XP_011541145.1:p.Thr1840AspfsTer9
XM_011542844.1:c.4472dup	XP_011541146.1:p.Thr1492AspfsTer9
XM_011542845.1:c.4208dup	XP_011541147.1:p.Thr1404AspfsTer9
XM_011542847.1:c.587dup	XP_011541149.1:p.Thr197AspfsTer9
NM_001351834.1:c.5516dup	NP_001338763.1:p.Thr1840AspfsTer9
XM_005271562.5:c.5516dup	XP_005271619.2:p.Thr1840AspfsTer9
XM_006718843.4:c.5516dup	XP_006718906.1:p.Thr1840AspfsTer9
XM_006718845.2:c.1472dup	XP_006718908.1:p.Thr492AspfsTer9
XM_011542840.3:c.5516dup	XP_011541142.1:p.Thr1840AspfsTer9
XM_011542842.3:c.5351dup	XP_011541144.1:p.Thr1785AspfsTer9
XM_011542843.2:c.5516dup	XP_011541145.1:p.Thr1840AspfsTer9
XM_011542844.3:c.4472dup	XP_011541146.1:p.Thr1492AspfsTer9
XM_011542845.2:c.4208dup	XP_011541147.1:p.Thr1404AspfsTer9
XM_017017789.2:c.5516dup	XP_016873278.1:p.Thr1840AspfsTer9
XM_017017790.2:c.5516dup	XP_016873279.1:p.Thr1840AspfsTer9
XM_017017791.1:c.5516dup	XP_016873280.1:p.Thr1840AspfsTer9
XR_002957150.1:n.6116dup
NM_001351834.2:c.5516dup	NP_001338763.1:p.Thr1840AspfsTer9
NM_000051.4:c.5516dup MANE Select	NP_000042.3:p.Thr1840AspfsTer9