Canonical Allele Identifier: CA298009
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108343376_108343379del , CM000673.2:g.108343376_108343379del GRCh38
NC_000011.9:g.108214103_108214106del , CM000673.1:g.108214103_108214106del GRCh37
NC_000011.8:g.107719313_107719316del NCBI36
NG_009830.1:g.125545_125548del , LRG_135:g.125545_125548del
NG_054724.1:g.131458_131461del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8418+5_8418+8del (ATM) ENSP00000388058.2:n.8418+5_8418+8del
ENST00000713593.1:c.*7889+5_*7889+8del (ATM) ENSP00000518889.1:n.*7889+5_*7889+8del
ENST00000278616.9:c.8418+5_8418+8del (ATM) ENSP00000278616.4:n.8418+5_8418+8del
ENST00000638786.2:n.1116+5_1116+8del (ATM)
ENST00000682286.1:n.3175+5_3175+8del (ATM)
ENST00000682302.1:n.2836+5_2836+8del (ATM)
ENST00000683174.1:n.9902+5_9902+8del (ATM)
ENST00000683524.1:n.3642+5_3642+8del (ATM)
ENST00000684152.1:n.3834+5_3834+8del (ATM)
ENST00000684180.1:n.892+5_892+8del (ATM)
ENST00000684447.1:n.4911+5_4911+8del (ATM)
ENST00000527805.6:c.*3482+5_*3482+8del (ATM) ENSP00000435747.2:n.*3482+5_*3482+8del
ENST00000675595.1:c.*3553+5_*3553+8del (ATM) ENSP00000502563.1:n.*3553+5_*3553+8del
ENST00000675843.1:c.8418+5_8418+8del (ATM) MANE Select ENSP00000501606.1:n.8418+5_8418+8del
ENST00000278616.8:c.8418+5_8418+8del (ATM) ENSP00000278616.4:n.8418+5_8418+8del
ENST00000452508.6:c.8418+5_8418+8del (ATM) ENSP00000388058.2:n.8418+5_8418+8del
ENST00000524755.5:c.227-8083_227-8080del (C11orf65)
ENST00000524792.5:n.4633+5_4633+8del (ATM)
ENST00000525729.5:c.641-34304_641-34301del (C11orf65) ENSP00000433395.1:n.641-34304_641-34301del
ENST00000526725.1:n.272-3011_272-3008del (C11orf65)
ENST00000527531.5:c.*1197-8083_*1197-8080del (C11orf65) ENSP00000431706.1:n.*1197-8083_*1197-8080del
ENST00000615746.4:c.*1197-8083_*1197-8080del (C11orf65) ENSP00000483537.1:n.*1197-8083_*1197-8080del
NM_000051.3:c.8418+5_8418+8del , LRG_135t1:c.8418+5_8418+8del (ATM) NP_000042.3:n.8418+5_8418+8del
XM_005271414.3:c.788-8083_788-8080del (C11orf65) XP_005271471.1:n.788-8083_788-8080del
XM_005271415.3:c.732-8083_732-8080del (C11orf65) XP_005271472.1:n.732-8083_732-8080del
XM_005271561.3:c.8418+5_8418+8del (ATM) XP_005271618.2:n.8418+5_8418+8del
XM_005271562.3:c.8418+5_8418+8del (ATM) XP_005271619.2:n.8418+5_8418+8del
XM_006718843.2:c.8418+5_8418+8del (ATM) XP_006718906.1:n.8418+5_8418+8del
XM_006718845.1:c.4374+5_4374+8del (ATM) XP_006718908.1:n.4374+5_4374+8del
XM_011542640.1:c.788-3011_788-3008del (C11orf65) XP_011540942.1:n.788-3011_788-3008del
XM_011542643.1:c.732-3011_732-3008del (C11orf65) XP_011540945.1:n.732-3011_732-3008del
XM_011542840.1:c.8418+5_8418+8del (ATM) XP_011541142.1:n.8418+5_8418+8del
XM_011542841.1:c.8418+5_8418+8del (ATM) XP_011541143.1:n.8418+5_8418+8del
XM_011542842.1:c.8253+5_8253+8del (ATM) XP_011541144.1:n.8253+5_8253+8del
XM_011542843.1:c.8418+5_8418+8del (ATM) XP_011541145.1:n.8418+5_8418+8del
XM_011542844.1:c.7374+5_7374+8del (ATM) XP_011541146.1:n.7374+5_7374+8del
XM_011542845.1:c.7110+5_7110+8del (ATM) XP_011541147.1:n.7110+5_7110+8del
XM_011542847.1:c.3489+5_3489+8del (ATM) XP_011541149.1:n.3489+5_3489+8del
NM_001330368.1:c.641-34304_641-34301del (C11orf65) NP_001317297.1:n.641-34304_641-34301del
NM_001351110.1:c.695-8083_695-8080del (C11orf65) NP_001338039.1:n.695-8083_695-8080del
NM_001351834.1:c.8418+5_8418+8del (ATM) NP_001338763.1:n.8418+5_8418+8del
NR_147053.2:n.2302-8083_2302-8080del (C11orf65)
XM_005271414.4:c.788-8083_788-8080del (C11orf65) XP_005271471.1:n.788-8083_788-8080del
XM_005271415.4:c.732-8083_732-8080del (C11orf65) XP_005271472.1:n.732-8083_732-8080del
XM_005271562.5:c.8418+5_8418+8del (ATM) XP_005271619.2:n.8418+5_8418+8del
XM_006718843.4:c.8418+5_8418+8del (ATM) XP_006718906.1:n.8418+5_8418+8del
XM_006718845.2:c.4374+5_4374+8del (ATM) XP_006718908.1:n.4374+5_4374+8del
XM_011542640.2:c.788-3011_788-3008del (C11orf65) XP_011540942.1:n.788-3011_788-3008del
XM_011542643.2:c.732-3011_732-3008del (C11orf65) XP_011540945.1:n.732-3011_732-3008del
XM_011542840.3:c.8418+5_8418+8del (ATM) XP_011541142.1:n.8418+5_8418+8del
XM_011542842.3:c.8253+5_8253+8del (ATM) XP_011541144.1:n.8253+5_8253+8del
XM_011542843.2:c.8418+5_8418+8del (ATM) XP_011541145.1:n.8418+5_8418+8del
XM_011542844.3:c.7374+5_7374+8del (ATM) XP_011541146.1:n.7374+5_7374+8del
XM_011542845.2:c.7110+5_7110+8del (ATM) XP_011541147.1:n.7110+5_7110+8del
XM_017017247.1:c.904-3011_904-3008del (C11orf65) XP_016872736.1:n.904-3011_904-3008del
XM_017017789.2:c.8418+5_8418+8del (ATM) XP_016873278.1:n.8418+5_8418+8del
XM_017017790.2:c.8418+5_8418+8del (ATM) XP_016873279.1:n.8418+5_8418+8del
NM_001330368.2:c.641-34304_641-34301del (C11orf65) NP_001317297.1:n.641-34304_641-34301del
NM_001351110.2:c.695-8083_695-8080del (C11orf65) NP_001338039.1:n.695-8083_695-8080del
NM_001351834.2:c.8418+5_8418+8del (ATM) NP_001338763.1:n.8418+5_8418+8del
NM_000051.4:c.8418+5_8418+8del (ATM) MANE Select NP_000042.3:n.8418+5_8418+8del
NR_147053.3:n.2300-8083_2300-8080del (C11orf65)
Search 100 bp 5'
Search 100 bp 3'