Canonical Allele Identifier: CA645598135
Community Standard Title: NM_000051.4(ATM):c.8534_8535delinsAA (p.Trp2845Ter)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108345858_108345859delinsAA , CM000673.2:g.108345858_108345859delinsAA GRCh38
NC_000011.9:g.108216585_108216586delinsAA , CM000673.1:g.108216585_108216586delinsAA GRCh37
NC_000011.8:g.107721795_107721796delinsAA NCBI36
NG_009830.1:g.128027_128028delinsAA , LRG_135:g.128027_128028delinsAA
NG_054724.1:g.128974_128975delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8534_8535delinsAA (ATM) MANE Select NP_000042.3:p.Trp2845Ter
ENST00000675843.1:c.8534_8535delinsAA (ATM) MANE Select ENSP00000501606.1:p.Trp2845Ter
NM_000051.3:c.8534_8535delinsAA , LRG_135t1:c.8534_8535delinsAA (ATM) NP_000042.3:p.Trp2845Ter
NM_001330368.1:c.641-36788_641-36787delinsTT (C11orf65) NP_001317297.1:n.641-36788_641-36787delinsTT
NM_001330368.2:c.641-36788_641-36787delinsTT (C11orf65) NP_001317297.1:n.641-36788_641-36787delinsTT
NM_001351110.1:c.695-10567_695-10566delinsTT (C11orf65) NP_001338039.1:n.695-10567_695-10566delinsTT
NM_001351110.2:c.695-10567_695-10566delinsTT (C11orf65) NP_001338039.1:n.695-10567_695-10566delinsTT
NM_001351834.1:c.8534_8535delinsAA (ATM) NP_001338763.1:p.Trp2845Ter
NM_001351834.2:c.8534_8535delinsAA (ATM) NP_001338763.1:p.Trp2845Ter
NR_147053.2:n.2301+9056_2301+9057delinsTT (C11orf65)
NR_147053.3:n.2299+9056_2299+9057delinsTT (C11orf65)
ENST00000278616.8:c.8534_8535delinsAA (ATM) ENSP00000278616.4:p.Trp2845Ter
ENST00000278616.9:c.8534_8535delinsAA (ATM) ENSP00000278616.4:p.Trp2845Ter
ENST00000452508.6:c.8534_8535delinsAA (ATM) ENSP00000388058.2:p.Trp2845Ter
ENST00000452508.7:c.8534_8535delinsAA (ATM) ENSP00000388058.2:p.Trp2845Ter
ENST00000524755.5:c.227-10567_227-10566delinsTT (C11orf65)
ENST00000524792.5:n.4749_4750delinsAA (ATM)
ENST00000525729.5:c.641-36788_641-36787delinsTT (C11orf65) ENSP00000433395.1:n.641-36788_641-36787delinsTT
ENST00000526725.1:n.272-5495_272-5494delinsTT (C11orf65)
ENST00000527531.5:c.*1196+9056_*1196+9057delinsTT (C11orf65) ENSP00000431706.1:n.*1196+9056_*1196+9057delinsTT
ENST00000527805.6:c.*3598_*3599delinsAA (ATM) ENSP00000435747.2:n.*3598_*3599delinsAA
ENST00000615746.4:c.*1196+9056_*1196+9057delinsTT (C11orf65) ENSP00000483537.1:n.*1196+9056_*1196+9057delinsTT
ENST00000638786.2:n.1232_1233delinsAA (ATM)
ENST00000675595.1:c.*3669_*3670delinsAA (ATM) ENSP00000502563.1:n.*3669_*3670delinsAA
ENST00000682286.1:n.3291_3292delinsAA (ATM)
ENST00000682302.1:n.2952_2953delinsAA (ATM)
ENST00000683174.1:n.10018_10019delinsAA (ATM)
ENST00000683524.1:n.3758_3759delinsAA (ATM)
ENST00000684152.1:n.3950_3951delinsAA (ATM)
ENST00000684180.1:n.1008_1009delinsAA (ATM)
ENST00000684447.1:n.5027_5028delinsAA (ATM)
ENST00000713593.1:c.*8005_*8006delinsAA (ATM) ENSP00000518889.1:n.*8005_*8006delinsAA
XM_005271414.3:c.788-10567_788-10566delinsTT (C11orf65) XP_005271471.1:n.788-10567_788-10566delinsTT
XM_005271414.4:c.788-10567_788-10566delinsTT (C11orf65) XP_005271471.1:n.788-10567_788-10566delinsTT
XM_005271415.3:c.732-10567_732-10566delinsTT (C11orf65) XP_005271472.1:n.732-10567_732-10566delinsTT
XM_005271415.4:c.732-10567_732-10566delinsTT (C11orf65) XP_005271472.1:n.732-10567_732-10566delinsTT
XM_005271561.3:c.8534_8535delinsAA (ATM) XP_005271618.2:p.Trp2845Ter
XM_005271562.3:c.8534_8535delinsAA (ATM) XP_005271619.2:p.Trp2845Ter
XM_005271562.5:c.8534_8535delinsAA (ATM) XP_005271619.2:p.Trp2845Ter
XM_006718843.2:c.8534_8535delinsAA (ATM) XP_006718906.1:p.Trp2845Ter
XM_006718843.4:c.8534_8535delinsAA (ATM) XP_006718906.1:p.Trp2845Ter
XM_006718845.1:c.4490_4491delinsAA (ATM) XP_006718908.1:p.Trp1497Ter
XM_006718845.2:c.4490_4491delinsAA (ATM) XP_006718908.1:p.Trp1497Ter
XM_011542640.1:c.788-5495_788-5494delinsTT (C11orf65) XP_011540942.1:n.788-5495_788-5494delinsTT
XM_011542640.2:c.788-5495_788-5494delinsTT (C11orf65) XP_011540942.1:n.788-5495_788-5494delinsTT
XM_011542643.1:c.732-5495_732-5494delinsTT (C11orf65) XP_011540945.1:n.732-5495_732-5494delinsTT
XM_011542643.2:c.732-5495_732-5494delinsTT (C11orf65) XP_011540945.1:n.732-5495_732-5494delinsTT
XM_011542840.1:c.8534_8535delinsAA (ATM) XP_011541142.1:p.Trp2845Ter
XM_011542840.3:c.8534_8535delinsAA (ATM) XP_011541142.1:p.Trp2845Ter
XM_011542841.1:c.8534_8535delinsAA (ATM) XP_011541143.1:p.Trp2845Ter
XM_011542842.1:c.8369_8370delinsAA (ATM) XP_011541144.1:p.Trp2790Ter
XM_011542842.3:c.8369_8370delinsAA (ATM) XP_011541144.1:p.Trp2790Ter
XM_011542843.1:c.8534_8535delinsAA (ATM) XP_011541145.1:p.Trp2845Ter
XM_011542843.2:c.8534_8535delinsAA (ATM) XP_011541145.1:p.Trp2845Ter
XM_011542844.1:c.7490_7491delinsAA (ATM) XP_011541146.1:p.Trp2497Ter
XM_011542844.3:c.7490_7491delinsAA (ATM) XP_011541146.1:p.Trp2497Ter
XM_011542845.1:c.7226_7227delinsAA (ATM) XP_011541147.1:p.Trp2409Ter
XM_011542845.2:c.7226_7227delinsAA (ATM) XP_011541147.1:p.Trp2409Ter
XM_011542847.1:c.3605_3606delinsAA (ATM) XP_011541149.1:p.Trp1202Ter
XM_017017247.1:c.904-5495_904-5494delinsTT (C11orf65) XP_016872736.1:n.904-5495_904-5494delinsTT
XM_017017789.2:c.8534_8535delinsAA (ATM) XP_016873278.1:p.Trp2845Ter
XM_017017790.2:c.8534_8535delinsAA (ATM) XP_016873279.1:p.Trp2845Ter
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