Canonical Allele Identifier: CA671414741
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs71047689
gnomAD v3: 11-108354070-AACAC-A
gnomAD v4: 11-108354070-AACAC-A
MyVariant Identifiers: chr11:g.108224798_108224801del (hg19) chr11:g.108354071_108354074del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354103_108354106del , CM000673.2:g.108354103_108354106del GRCh38
NC_000011.9:g.108224830_108224833del , CM000673.1:g.108224830_108224833del GRCh37
NC_000011.8:g.107730040_107730043del NCBI36
NG_009830.1:g.136272_136275del , LRG_135:g.136272_136275del
NG_054724.1:g.120759_120762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+223_8786+226del (ATM) ENSP00000388058.2:n.8786+223_8786+226del
ENST00000713593.1:c.*8257+223_*8257+226del (ATM) ENSP00000518889.1:n.*8257+223_*8257+226del
ENST00000278616.9:c.8786+223_8786+226del (ATM) ENSP00000278616.4:n.8786+223_8786+226del
ENST00000638786.2:n.1484+223_1484+226del (ATM)
ENST00000682286.1:n.3543+223_3543+226del (ATM)
ENST00000682302.1:n.3204+223_3204+226del (ATM)
ENST00000683174.1:n.10270+223_10270+226del (ATM)
ENST00000683524.1:n.4010+223_4010+226del (ATM)
ENST00000684152.1:n.4202+223_4202+226del (ATM)
ENST00000684180.1:n.1260+223_1260+226del (ATM)
ENST00000684447.1:n.5279+223_5279+226del (ATM)
ENST00000527805.6:c.*3850+223_*3850+226del (ATM) ENSP00000435747.2:n.*3850+223_*3850+226del
ENST00000675595.1:c.*3921+223_*3921+226del (ATM) ENSP00000502563.1:n.*3921+223_*3921+226del
ENST00000675843.1:c.8786+223_8786+226del (ATM) MANE Select ENSP00000501606.1:n.8786+223_8786+226del
ENST00000278616.8:c.8786+223_8786+226del (ATM) ENSP00000278616.4:n.8786+223_8786+226del
ENST00000452508.6:c.8786+223_8786+226del (ATM) ENSP00000388058.2:n.8786+223_8786+226del
ENST00000524755.5:c.227-18782_227-18779del (C11orf65)
ENST00000524792.5:n.5001+223_5001+226del (ATM)
ENST00000525178.5:n.274+223_274+226del (ATM)
ENST00000525729.5:c.640+31846_640+31849del (C11orf65) ENSP00000433395.1:n.640+31846_640+31849del
ENST00000526725.1:n.272-13710_272-13707del (C11orf65)
ENST00000527181.1:n.125+223_125+226del (ATM)
ENST00000527531.5:c.*1196+841_*1196+844del (C11orf65) ENSP00000431706.1:n.*1196+841_*1196+844del
ENST00000615746.4:c.*1196+841_*1196+844del (C11orf65) ENSP00000483537.1:n.*1196+841_*1196+844del
NM_000051.3:c.8786+223_8786+226del , LRG_135t1:c.8786+223_8786+226del (ATM) NP_000042.3:n.8786+223_8786+226del
XM_005271414.3:c.788-18782_788-18779del (C11orf65) XP_005271471.1:n.788-18782_788-18779del
XM_005271415.3:c.732-18782_732-18779del (C11orf65) XP_005271472.1:n.732-18782_732-18779del
XM_005271561.3:c.8786+223_8786+226del (ATM) XP_005271618.2:n.8786+223_8786+226del
XM_005271562.3:c.8786+223_8786+226del (ATM) XP_005271619.2:n.8786+223_8786+226del
XM_006718843.2:c.8786+223_8786+226del (ATM) XP_006718906.1:n.8786+223_8786+226del
XM_006718845.1:c.4742+223_4742+226del (ATM) XP_006718908.1:n.4742+223_4742+226del
XM_011542640.1:c.788-13710_788-13707del (C11orf65) XP_011540942.1:n.788-13710_788-13707del
XM_011542642.1:c.732-5001_732-4998del (C11orf65) XP_011540944.1:n.732-5001_732-4998del
XM_011542643.1:c.732-13710_732-13707del (C11orf65) XP_011540945.1:n.732-13710_732-13707del
XM_011542840.1:c.8786+223_8786+226del (ATM) XP_011541142.1:n.8786+223_8786+226del
XM_011542841.1:c.8786+223_8786+226del (ATM) XP_011541143.1:n.8786+223_8786+226del
XM_011542842.1:c.8621+223_8621+226del (ATM) XP_011541144.1:n.8621+223_8621+226del
XM_011542844.1:c.7742+223_7742+226del (ATM) XP_011541146.1:n.7742+223_7742+226del
XM_011542845.1:c.7478+223_7478+226del (ATM) XP_011541147.1:n.7478+223_7478+226del
XM_011542847.1:c.3857+223_3857+226del (ATM) XP_011541149.1:n.3857+223_3857+226del
NM_001330368.1:c.640+31846_640+31849del (C11orf65) NP_001317297.1:n.640+31846_640+31849del
NM_001351110.1:c.695-18782_695-18779del (C11orf65) NP_001338039.1:n.695-18782_695-18779del
NM_001351834.1:c.8786+223_8786+226del (ATM) NP_001338763.1:n.8786+223_8786+226del
NR_147053.2:n.2301+841_2301+844del (C11orf65)
XM_005271414.4:c.788-18782_788-18779del (C11orf65) XP_005271471.1:n.788-18782_788-18779del
XM_005271415.4:c.732-18782_732-18779del (C11orf65) XP_005271472.1:n.732-18782_732-18779del
XM_005271562.5:c.8786+223_8786+226del (ATM) XP_005271619.2:n.8786+223_8786+226del
XM_006718843.4:c.8786+223_8786+226del (ATM) XP_006718906.1:n.8786+223_8786+226del
XM_006718845.2:c.4742+223_4742+226del (ATM) XP_006718908.1:n.4742+223_4742+226del
XM_011542640.2:c.788-13710_788-13707del (C11orf65) XP_011540942.1:n.788-13710_788-13707del
XM_011542643.2:c.732-13710_732-13707del (C11orf65) XP_011540945.1:n.732-13710_732-13707del
XM_011542840.3:c.8786+223_8786+226del (ATM) XP_011541142.1:n.8786+223_8786+226del
XM_011542842.3:c.8621+223_8621+226del (ATM) XP_011541144.1:n.8621+223_8621+226del
XM_011542844.3:c.7742+223_7742+226del (ATM) XP_011541146.1:n.7742+223_7742+226del
XM_011542845.2:c.7478+223_7478+226del (ATM) XP_011541147.1:n.7478+223_7478+226del
XM_017017247.1:c.904-13710_904-13707del (C11orf65) XP_016872736.1:n.904-13710_904-13707del
XM_017017789.2:c.8786+223_8786+226del (ATM) XP_016873278.1:n.8786+223_8786+226del
XM_017017790.2:c.8786+223_8786+226del (ATM) XP_016873279.1:n.8786+223_8786+226del
NM_001330368.2:c.640+31846_640+31849del (C11orf65) NP_001317297.1:n.640+31846_640+31849del
NM_001351110.2:c.695-18782_695-18779del (C11orf65) NP_001338039.1:n.695-18782_695-18779del
NM_001351834.2:c.8786+223_8786+226del (ATM) NP_001338763.1:n.8786+223_8786+226del
NM_000051.4:c.8786+223_8786+226del (ATM) MANE Select NP_000042.3:n.8786+223_8786+226del
NR_147053.3:n.2299+841_2299+844del (C11orf65)
Search 100 bp 5'
Search 100 bp 3'