Canonical Allele Identifier: CA169859
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 142954
ClinVar RCV Id: RCV001211331 RCV002251998 RCV002498648 RCV003467196
dbSNP Id: rs587782847
MyVariant Identifiers: chr11:g.108236111_108236121del (hg19) chr11:g.108365384_108365394del (hg38)
PubMed: PMID:12552559 PMID:16603769 PMID:16941484 PMID:17923702
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108365384_108365394del , CM000673.2:g.108365384_108365394del GRCh38
NC_000011.9:g.108236111_108236121del , CM000673.1:g.108236111_108236121del GRCh37
NC_000011.8:g.107741321_107741331del NCBI36
NG_009830.1:g.147553_147563del , LRG_135:g.147553_147563del
NG_054724.1:g.109441_109451del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.9047_9057del (ATM) ENSP00000388058.2:p.Lys3016SerfsTer?
ENST00000713593.1:c.*8518_*8528del (ATM) ENSP00000518889.1:n.*8518_*8528del
ENST00000278616.9:c.9047_9057del (ATM) ENSP00000278616.4:p.Lys3016SerfsTer?
ENST00000638786.2:n.1745_1755del (ATM)
ENST00000682286.1:n.3804_3814del (ATM)
ENST00000682302.1:n.3465_3475del (ATM)
ENST00000682569.1:n.2394_2404del (ATM)
ENST00000683174.1:n.10531_10541del (ATM)
ENST00000683524.1:n.4271_4281del (ATM)
ENST00000684152.1:n.4463_4473del (ATM)
ENST00000684180.1:n.1521_1531del (ATM)
ENST00000684447.1:n.5540_5550del (ATM)
ENST00000527805.6:c.*4111_*4121del (ATM) ENSP00000435747.2:n.*4111_*4121del
ENST00000675595.1:c.*4182_*4192del (ATM) ENSP00000502563.1:n.*4182_*4192del
ENST00000675843.1:c.9047_9057del (ATM) MANE Select ENSP00000501606.1:p.Lys3016SerfsTer?
ENST00000278616.8:c.9047_9057del (ATM) ENSP00000278616.4:p.Lys3016SerfsTer?
ENST00000452508.6:c.9047_9057del (ATM) ENSP00000388058.2:p.Lys3016SerfsTer?
ENST00000524755.5:c.226+27816_226+27826del (C11orf65)
ENST00000524792.5:n.5262_5272del (ATM)
ENST00000525178.5:n.535_545del (ATM)
ENST00000525729.5:c.640+20528_640+20538del (C11orf65) ENSP00000433395.1:n.640+20528_640+20538de...
ENST00000526725.1:n.272-25028_272-25018del (C11orf65)
ENST00000527181.1:n.386_396del (ATM)
ENST00000527531.5:c.*2-9283_*2-9273del (C11orf65) ENSP00000431706.1:n.*2-9283_*2-9273del
ENST00000615746.4:c.*2-9283_*2-9273del (C11orf65) ENSP00000483537.1:n.*2-9283_*2-9273del
NM_000051.3:c.9047_9057del , LRG_135t1:c.9047_9057del (ATM) NP_000042.3:p.Lys3016SerfsTer?
XM_005271414.3:c.787+20528_787+20538del (C11orf65) XP_005271471.1:n.787+20528_787+20538del
XM_005271415.3:c.731+27816_731+27826del (C11orf65) XP_005271472.1:n.731+27816_731+27826del
XM_005271561.3:c.9047_9057del (ATM) XP_005271618.2:p.Lys3016SerfsTer?
XM_005271562.3:c.9047_9057del (ATM) XP_005271619.2:p.Lys3016SerfsTer?
XM_006718843.2:c.9047_9057del (ATM) XP_006718906.1:p.Lys3016SerfsTer?
XM_006718845.1:c.5003_5013del (ATM) XP_006718908.1:p.Lys1668SerfsTer?
XM_011542640.1:c.787+20528_787+20538del (C11orf65) XP_011540942.1:n.787+20528_787+20538del
XM_011542642.1:c.732-16319_732-16309del (C11orf65) XP_011540944.1:n.732-16319_732-16309del
XM_011542643.1:c.732-25028_732-25018del (C11orf65) XP_011540945.1:n.732-25028_732-25018del
XM_011542840.1:c.9047_9057del (ATM) XP_011541142.1:p.Lys3016SerfsTer?
XM_011542841.1:c.9047_9057del (ATM) XP_011541143.1:p.Lys3016SerfsTer?
XM_011542842.1:c.8882_8892del (ATM) XP_011541144.1:p.Lys2961SerfsTer?
XM_011542844.1:c.8003_8013del (ATM) XP_011541146.1:p.Lys2668SerfsTer?
XM_011542845.1:c.7739_7749del (ATM) XP_011541147.1:p.Lys2580SerfsTer?
XM_011542847.1:c.4118_4128del (ATM) XP_011541149.1:p.Lys1373SerfsTer?
NM_001330368.1:c.640+20528_640+20538del (C11orf65) NP_001317297.1:n.640+20528_640+20538del
NM_001351110.1:c.694+20528_694+20538del (C11orf65) NP_001338039.1:n.694+20528_694+20538del
NM_001351834.1:c.9047_9057del (ATM) NP_001338763.1:p.Lys3016SerfsTer?
NR_147053.2:n.1107-9283_1107-9273del (C11orf65)
XM_005271414.4:c.787+20528_787+20538del (C11orf65) XP_005271471.1:n.787+20528_787+20538del
XM_005271415.4:c.731+27816_731+27826del (C11orf65) XP_005271472.1:n.731+27816_731+27826del
XM_005271562.5:c.9047_9057del (ATM) XP_005271619.2:p.Lys3016SerfsTer?
XM_006718843.4:c.9047_9057del (ATM) XP_006718906.1:p.Lys3016SerfsTer?
XM_006718845.2:c.5003_5013del (ATM) XP_006718908.1:p.Lys1668SerfsTer?
XM_011542640.2:c.787+20528_787+20538del (C11orf65) XP_011540942.1:n.787+20528_787+20538del
XM_011542643.2:c.732-25028_732-25018del (C11orf65) XP_011540945.1:n.732-25028_732-25018del
XM_011542840.3:c.9047_9057del (ATM) XP_011541142.1:p.Lys3016SerfsTer?
XM_011542842.3:c.8882_8892del (ATM) XP_011541144.1:p.Lys2961SerfsTer?
XM_011542844.3:c.8003_8013del (ATM) XP_011541146.1:p.Lys2668SerfsTer?
XM_011542845.2:c.7739_7749del (ATM) XP_011541147.1:p.Lys2580SerfsTer?
XM_017017247.1:c.903+17668_903+17678del (C11orf65) XP_016872736.1:n.903+17668_903+17678del
XM_017017789.2:c.9047_9057del (ATM) XP_016873278.1:p.Lys3016SerfsTer?
XM_017017790.2:c.9047_9057del (ATM) XP_016873279.1:p.Lys3016SerfsTer?
NM_001330368.2:c.640+20528_640+20538del (C11orf65) NP_001317297.1:n.640+20528_640+20538del
NM_001351110.2:c.694+20528_694+20538del (C11orf65) NP_001338039.1:n.694+20528_694+20538del
NM_001351834.2:c.9047_9057del (ATM) NP_001338763.1:p.Lys3016SerfsTer?
NM_000051.4:c.9047_9057del (ATM) MANE Select NP_000042.3:p.Lys3016SerfsTer?
NR_147053.3:n.1105-9283_1105-9273del (C11orf65)
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