Canonical Allele Identifier: CA10584348

Gene: ATM

Linked Data

• ClinVar Variation Id: 246237
• ClinVar RCV Id: RCV000235544 ; RCV000674524 ; RCV001182325 ; RCV004020932
• dbSNP Id: rs879254171
• MyVariant Identifiers: chr11:g.108173674G>A (hg19) ; chr11:g.108302947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302947G>A , CM000673.2:g.108302947G>A	GRCh38
NC_000011.9:g.108173674G>A , CM000673.1:g.108173674G>A	GRCh37
NC_000011.8:g.107678884G>A	NCBI36
NG_009830.1:g.85116G>A , LRG_135:g.85116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5414G>A	ENSP00000388058.2:p.Trp1805Ter
ENST00000713593.1:c.*4885G>A	ENSP00000518889.1:n.*4885G>A
ENST00000278616.9:c.5414G>A	ENSP00000278616.4:p.Trp1805Ter
ENST00000683174.1:n.6898G>A
ENST00000683524.1:n.638G>A
ENST00000684152.1:n.1128G>A
ENST00000527805.6:c.*478G>A	ENSP00000435747.2:n.*478G>A
ENST00000675595.1:c.*478G>A	ENSP00000502563.1:n.*478G>A
ENST00000675843.1:c.5414G>A MANE Select	ENSP00000501606.1:p.Trp1805Ter
ENST00000278616.8:c.5414G>A	ENSP00000278616.4:p.Trp1805Ter
ENST00000452508.6:c.5414G>A	ENSP00000388058.2:p.Trp1805Ter
ENST00000524792.5:n.1629G>A
ENST00000533690.5:n.818G>A
ENST00000534625.1:n.643G>A
NM_000051.3:c.5414G>A , LRG_135t1:c.5414G>A	NP_000042.3:p.Trp1805Ter
XM_005271561.3:c.5414G>A	XP_005271618.2:p.Trp1805Ter
XM_005271562.3:c.5414G>A	XP_005271619.2:p.Trp1805Ter
XM_006718843.2:c.5414G>A	XP_006718906.1:p.Trp1805Ter
XM_006718845.1:c.1370G>A	XP_006718908.1:p.Trp457Ter
XM_011542840.1:c.5414G>A	XP_011541142.1:p.Trp1805Ter
XM_011542841.1:c.5414G>A	XP_011541143.1:p.Trp1805Ter
XM_011542842.1:c.5249G>A	XP_011541144.1:p.Trp1750Ter
XM_011542843.1:c.5414G>A	XP_011541145.1:p.Trp1805Ter
XM_011542844.1:c.4370G>A	XP_011541146.1:p.Trp1457Ter
XM_011542845.1:c.4106G>A	XP_011541147.1:p.Trp1369Ter
XM_011542846.1:c.*72G>A	XP_011541148.1:n.*72G>A
XM_011542847.1:c.485G>A	XP_011541149.1:p.Trp162Ter
NM_001351834.1:c.5414G>A	NP_001338763.1:p.Trp1805Ter
XM_005271562.5:c.5414G>A	XP_005271619.2:p.Trp1805Ter
XM_006718843.4:c.5414G>A	XP_006718906.1:p.Trp1805Ter
XM_006718845.2:c.1370G>A	XP_006718908.1:p.Trp457Ter
XM_011542840.3:c.5414G>A	XP_011541142.1:p.Trp1805Ter
XM_011542842.3:c.5249G>A	XP_011541144.1:p.Trp1750Ter
XM_011542843.2:c.5414G>A	XP_011541145.1:p.Trp1805Ter
XM_011542844.3:c.4370G>A	XP_011541146.1:p.Trp1457Ter
XM_011542845.2:c.4106G>A	XP_011541147.1:p.Trp1369Ter
XM_017017789.2:c.5414G>A	XP_016873278.1:p.Trp1805Ter
XM_017017790.2:c.5414G>A	XP_016873279.1:p.Trp1805Ter
XM_017017791.1:c.5414G>A	XP_016873280.1:p.Trp1805Ter
XR_002957150.1:n.6014G>A
NM_001351834.2:c.5414G>A	NP_001338763.1:p.Trp1805Ter
NM_000051.4:c.5414G>A MANE Select	NP_000042.3:p.Trp1805Ter