Canonical Allele Identifier: CA345709
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 140818
ClinVar RCV Id: RCV000129007 RCV000205392 RCV000236518 RCV002221494 RCV002498639
dbSNP Id: rs587781299
gnomAD v2: 11-108198392-T-TA
gnomAD v3: 11-108327665-T-TA
gnomAD v4: 11-108327665-T-TA
COSMIC: COSM4615844 COSM4615845
MyVariant Identifiers: chr11:g.108198393dupA (hg19) chr11:g.108198392_108198393insA (hg19) chr11:g.108327666dupA (hg38) chr11:g.108327665_108327666insA (hg38)
ERepo: CA345709/MONDO:0016419/020
PubMed: PMID:9463314 PMID:10817650 PMID:19781682 PMID:21787400 PMID:23585368 PMID:24763289 PMID:26845104 PMID:27153395
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108327666dup , CM000673.2:g.108327666dup GRCh38
NC_000011.9:g.108198393dup , CM000673.1:g.108198393dup GRCh37
NC_000011.8:g.107703603dup NCBI36
NG_009830.1:g.109835dup , LRG_135:g.109835dup
NG_054724.1:g.147167dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6997dup (ATM) ENSP00000388058.2:p.Thr2333AsnfsTer?
ENST00000713593.1:c.*6468dup (ATM) ENSP00000518889.1:n.*6468dup
ENST00000278616.9:c.6997dup (ATM) ENSP00000278616.4:p.Thr2333AsnfsTer?
ENST00000525056.2:n.1416dup (ATM)
ENST00000682286.1:n.1754dup (ATM)
ENST00000682302.1:n.1415dup (ATM)
ENST00000683174.1:n.8481dup (ATM)
ENST00000683524.1:n.2221dup (ATM)
ENST00000684152.1:n.2711dup (ATM)
ENST00000684447.1:n.1460dup (ATM)
ENST00000527805.6:c.*2061dup (ATM) ENSP00000435747.2:n.*2061dup
ENST00000675595.1:c.*2132dup (ATM) ENSP00000502563.1:n.*2132dup
ENST00000675843.1:c.6997dup (ATM) MANE Select ENSP00000501606.1:p.Thr2333AsnfsTer?
ENST00000278616.8:c.6997dup (ATM) ENSP00000278616.4:p.Thr2333AsnfsTer?
ENST00000452508.6:c.6997dup (ATM) ENSP00000388058.2:p.Thr2333AsnfsTer?
ENST00000524792.5:n.3212dup (ATM)
ENST00000525537.2:n.273dup (ATM)
ENST00000525729.5:c.641-18595dup (C11orf65) ENSP00000433395.1:n.641-18595dup
ENST00000527389.2:n.22dup (ATM)
ENST00000533690.5:n.2401dup (ATM)
NM_000051.3:c.6997dup , LRG_135t1:c.6997dup (ATM) NP_000042.3:p.Thr2333AsnfsTer?
XM_005271561.3:c.6997dup (ATM) XP_005271618.2:p.Thr2333AsnfsTer?
XM_005271562.3:c.6997dup (ATM) XP_005271619.2:p.Thr2333AsnfsTer?
XM_006718843.2:c.6997dup (ATM) XP_006718906.1:p.Thr2333AsnfsTer?
XM_006718845.1:c.2953dup (ATM) XP_006718908.1:p.Thr985AsnfsTer?
XM_011542840.1:c.6997dup (ATM) XP_011541142.1:p.Thr2333AsnfsTer?
XM_011542841.1:c.6997dup (ATM) XP_011541143.1:p.Thr2333AsnfsTer?
XM_011542842.1:c.6832dup (ATM) XP_011541144.1:p.Thr2278AsnfsTer?
XM_011542843.1:c.6997dup (ATM) XP_011541145.1:p.Thr2333AsnfsTer?
XM_011542844.1:c.5953dup (ATM) XP_011541146.1:p.Thr1985AsnfsTer?
XM_011542845.1:c.5689dup (ATM) XP_011541147.1:p.Thr1897AsnfsTer?
XM_011542847.1:c.2068dup (ATM) XP_011541149.1:p.Thr690AsnfsTer?
NM_001330368.1:c.641-18595dup (C11orf65) NP_001317297.1:n.641-18595dup
NM_001351110.1:c.*38+7554dup (C11orf65) NP_001338039.1:n.*38+7554dup
NM_001351834.1:c.6997dup (ATM) NP_001338763.1:p.Thr2333AsnfsTer?
XM_005271562.5:c.6997dup (ATM) XP_005271619.2:p.Thr2333AsnfsTer?
XM_006718843.4:c.6997dup (ATM) XP_006718906.1:p.Thr2333AsnfsTer?
XM_006718845.2:c.2953dup (ATM) XP_006718908.1:p.Thr985AsnfsTer?
XM_011542840.3:c.6997dup (ATM) XP_011541142.1:p.Thr2333AsnfsTer?
XM_011542842.3:c.6832dup (ATM) XP_011541144.1:p.Thr2278AsnfsTer?
XM_011542843.2:c.6997dup (ATM) XP_011541145.1:p.Thr2333AsnfsTer?
XM_011542844.3:c.5953dup (ATM) XP_011541146.1:p.Thr1985AsnfsTer?
XM_011542845.2:c.5689dup (ATM) XP_011541147.1:p.Thr1897AsnfsTer?
XM_017017789.2:c.6997dup (ATM) XP_016873278.1:p.Thr2333AsnfsTer?
XM_017017790.2:c.6997dup (ATM) XP_016873279.1:p.Thr2333AsnfsTer?
NM_001330368.2:c.641-18595dup (C11orf65) NP_001317297.1:n.641-18595dup
NM_001351110.2:c.*38+7554dup (C11orf65) NP_001338039.1:n.*38+7554dup
NM_001351834.2:c.6997dup (ATM) NP_001338763.1:p.Thr2333AsnfsTer?
NM_000051.4:c.6997dup (ATM) MANE Select NP_000042.3:p.Thr2333AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'