Canonical Allele Identifier: CA658683735

Gene: ATM

Linked Data

• ClinVar Variation Id: 490457
• ClinVar RCV Id: RCV000582463 ; RCV002529181 ; RCV004024629
• dbSNP Id: rs1555074971
• MyVariant Identifiers: chr11:g.108127012dup (hg19) ; chr11:g.108256285dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108256285dup , CM000673.2:g.108256285dup	GRCh38
NC_000011.9:g.108127012dup , CM000673.1:g.108127012dup	GRCh37
NC_000011.8:g.107632222dup	NCBI36
NG_009830.1:g.38454dup , LRG_135:g.38454dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2195dup	ENSP00000388058.2:p.Met732IlefsTer6
ENST00000713593.1:c.*1666dup	ENSP00000518889.1:n.*1666dup
ENST00000278616.9:c.2195dup	ENSP00000278616.4:p.Met732IlefsTer6
ENST00000682516.1:n.2329dup
ENST00000683174.1:n.2345dup
ENST00000683605.1:n.1690dup
ENST00000684037.1:c.*1130dup	ENSP00000508245.1:n.*1130dup
ENST00000684061.1:n.2329dup
ENST00000527805.6:c.2195dup	ENSP00000435747.2:p.Met732IlefsTer6
ENST00000675595.1:c.2030dup	ENSP00000502563.1:p.Met677IlefsTer6
ENST00000675843.1:c.2195dup MANE Select	ENSP00000501606.1:p.Met732IlefsTer6
ENST00000278616.8:c.2195dup	ENSP00000278616.4:p.Met732IlefsTer6
ENST00000452508.6:c.2195dup	ENSP00000388058.2:p.Met732IlefsTer6
ENST00000527805.5:c.2195dup	ENSP00000435747.1:p.Met732IlefsTer6
NM_000051.3:c.2195dup , LRG_135t1:c.2195dup	NP_000042.3:p.Met732IlefsTer6
XM_005271561.3:c.2195dup	XP_005271618.2:p.Met732IlefsTer6
XM_005271562.3:c.2195dup	XP_005271619.2:p.Met732IlefsTer6
XM_006718843.2:c.2195dup	XP_006718906.1:p.Met732IlefsTer6
XM_011542840.1:c.2195dup	XP_011541142.1:p.Met732IlefsTer6
XM_011542841.1:c.2195dup	XP_011541143.1:p.Met732IlefsTer6
XM_011542842.1:c.2030dup	XP_011541144.1:p.Met677IlefsTer6
XM_011542843.1:c.2195dup	XP_011541145.1:p.Met732IlefsTer6
XM_011542844.1:c.1151dup	XP_011541146.1:p.Met384IlefsTer6
XM_011542845.1:c.887dup	XP_011541147.1:p.Met296IlefsTer6
XM_011542846.1:c.2195dup	XP_011541148.1:p.Met732IlefsTer6
NM_001351834.1:c.2195dup	NP_001338763.1:p.Met732IlefsTer6
XM_005271562.5:c.2195dup	XP_005271619.2:p.Met732IlefsTer6
XM_006718843.4:c.2195dup	XP_006718906.1:p.Met732IlefsTer6
XM_011542840.3:c.2195dup	XP_011541142.1:p.Met732IlefsTer6
XM_011542842.3:c.2030dup	XP_011541144.1:p.Met677IlefsTer6
XM_011542843.2:c.2195dup	XP_011541145.1:p.Met732IlefsTer6
XM_011542844.3:c.1151dup	XP_011541146.1:p.Met384IlefsTer6
XM_011542845.2:c.887dup	XP_011541147.1:p.Met296IlefsTer6
XM_017017789.2:c.2195dup	XP_016873278.1:p.Met732IlefsTer6
XM_017017790.2:c.2195dup	XP_016873279.1:p.Met732IlefsTer6
XM_017017791.1:c.2195dup	XP_016873280.1:p.Met732IlefsTer6
XM_017017792.2:c.2195dup	XP_016873281.1:p.Met732IlefsTer6
XR_002957150.1:n.2928dup
NM_001351834.2:c.2195dup	NP_001338763.1:p.Met732IlefsTer6
NM_000051.4:c.2195dup MANE Select	NP_000042.3:p.Met732IlefsTer6