Canonical Allele Identifier: CA2580083434
Community Standard Title: NM_000051.4(ATM):c.8531_8534del (p.Ile2844SerfsTer12)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108345855_108345858del , CM000673.2:g.108345855_108345858del GRCh38
NC_000011.9:g.108216582_108216585del , CM000673.1:g.108216582_108216585del GRCh37
NC_000011.8:g.107721792_107721795del NCBI36
NG_009830.1:g.128024_128027del , LRG_135:g.128024_128027del
NG_054724.1:g.128975_128978del

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8531_8534del (ATM) MANE Select NP_000042.3:p.Ile2844SerfsTer12
ENST00000675843.1:c.8531_8534del (ATM) MANE Select ENSP00000501606.1:p.Ile2844SerfsTer12
NM_000051.3:c.8531_8534del , LRG_135t1:c.8531_8534del (ATM) NP_000042.3:p.Ile2844SerfsTer12
NM_001330368.1:c.641-36787_641-36784del (C11orf65) NP_001317297.1:n.641-36787_641-36784del
NM_001330368.2:c.641-36787_641-36784del (C11orf65) NP_001317297.1:n.641-36787_641-36784del
NM_001351110.1:c.695-10566_695-10563del (C11orf65) NP_001338039.1:n.695-10566_695-10563del
NM_001351110.2:c.695-10566_695-10563del (C11orf65) NP_001338039.1:n.695-10566_695-10563del
NM_001351834.1:c.8531_8534del (ATM) NP_001338763.1:p.Ile2844SerfsTer12
NM_001351834.2:c.8531_8534del (ATM) NP_001338763.1:p.Ile2844SerfsTer12
NR_147053.2:n.2301+9057_2301+9060del (C11orf65)
NR_147053.3:n.2299+9057_2299+9060del (C11orf65)
ENST00000278616.8:c.8531_8534del (ATM) ENSP00000278616.4:p.Ile2844SerfsTer12
ENST00000278616.9:c.8531_8534del (ATM) ENSP00000278616.4:p.Ile2844SerfsTer12
ENST00000452508.6:c.8531_8534del (ATM) ENSP00000388058.2:p.Ile2844SerfsTer12
ENST00000452508.7:c.8531_8534del (ATM) ENSP00000388058.2:p.Ile2844SerfsTer12
ENST00000524755.5:c.227-10566_227-10563del (C11orf65)
ENST00000524792.5:n.4746_4749del (ATM)
ENST00000525729.5:c.641-36787_641-36784del (C11orf65) ENSP00000433395.1:n.641-36787_641-36784del
ENST00000526725.1:n.272-5494_272-5491del (C11orf65)
ENST00000527531.5:c.*1196+9057_*1196+9060del (C11orf65) ENSP00000431706.1:n.*1196+9057_*1196+9060del
ENST00000527805.6:c.*3595_*3598del (ATM) ENSP00000435747.2:n.*3595_*3598del
ENST00000615746.4:c.*1196+9057_*1196+9060del (C11orf65) ENSP00000483537.1:n.*1196+9057_*1196+9060del
ENST00000638786.2:n.1229_1232del (ATM)
ENST00000675595.1:c.*3666_*3669del (ATM) ENSP00000502563.1:n.*3666_*3669del
ENST00000682286.1:n.3288_3291del (ATM)
ENST00000682302.1:n.2949_2952del (ATM)
ENST00000683174.1:n.10015_10018del (ATM)
ENST00000683524.1:n.3755_3758del (ATM)
ENST00000684152.1:n.3947_3950del (ATM)
ENST00000684180.1:n.1005_1008del (ATM)
ENST00000684447.1:n.5024_5027del (ATM)
ENST00000713593.1:c.*8002_*8005del (ATM) ENSP00000518889.1:n.*8002_*8005del
XM_005271414.3:c.788-10566_788-10563del (C11orf65) XP_005271471.1:n.788-10566_788-10563del
XM_005271414.4:c.788-10566_788-10563del (C11orf65) XP_005271471.1:n.788-10566_788-10563del
XM_005271415.3:c.732-10566_732-10563del (C11orf65) XP_005271472.1:n.732-10566_732-10563del
XM_005271415.4:c.732-10566_732-10563del (C11orf65) XP_005271472.1:n.732-10566_732-10563del
XM_005271561.3:c.8531_8534del (ATM) XP_005271618.2:p.Ile2844SerfsTer12
XM_005271562.3:c.8531_8534del (ATM) XP_005271619.2:p.Ile2844SerfsTer12
XM_005271562.5:c.8531_8534del (ATM) XP_005271619.2:p.Ile2844SerfsTer12
XM_006718843.2:c.8531_8534del (ATM) XP_006718906.1:p.Ile2844SerfsTer12
XM_006718843.4:c.8531_8534del (ATM) XP_006718906.1:p.Ile2844SerfsTer12
XM_006718845.1:c.4487_4490del (ATM) XP_006718908.1:p.Ile1496SerfsTer12
XM_006718845.2:c.4487_4490del (ATM) XP_006718908.1:p.Ile1496SerfsTer12
XM_011542640.1:c.788-5494_788-5491del (C11orf65) XP_011540942.1:n.788-5494_788-5491del
XM_011542640.2:c.788-5494_788-5491del (C11orf65) XP_011540942.1:n.788-5494_788-5491del
XM_011542643.1:c.732-5494_732-5491del (C11orf65) XP_011540945.1:n.732-5494_732-5491del
XM_011542643.2:c.732-5494_732-5491del (C11orf65) XP_011540945.1:n.732-5494_732-5491del
XM_011542840.1:c.8531_8534del (ATM) XP_011541142.1:p.Ile2844SerfsTer12
XM_011542840.3:c.8531_8534del (ATM) XP_011541142.1:p.Ile2844SerfsTer12
XM_011542841.1:c.8531_8534del (ATM) XP_011541143.1:p.Ile2844SerfsTer12
XM_011542842.1:c.8366_8369del (ATM) XP_011541144.1:p.Ile2789SerfsTer12
XM_011542842.3:c.8366_8369del (ATM) XP_011541144.1:p.Ile2789SerfsTer12
XM_011542843.1:c.8531_8534del (ATM) XP_011541145.1:p.Ile2844SerfsTer12
XM_011542843.2:c.8531_8534del (ATM) XP_011541145.1:p.Ile2844SerfsTer12
XM_011542844.1:c.7487_7490del (ATM) XP_011541146.1:p.Ile2496SerfsTer12
XM_011542844.3:c.7487_7490del (ATM) XP_011541146.1:p.Ile2496SerfsTer12
XM_011542845.1:c.7223_7226del (ATM) XP_011541147.1:p.Ile2408SerfsTer12
XM_011542845.2:c.7223_7226del (ATM) XP_011541147.1:p.Ile2408SerfsTer12
XM_011542847.1:c.3602_3605del (ATM) XP_011541149.1:p.Ile1201SerfsTer12
XM_017017247.1:c.904-5494_904-5491del (C11orf65) XP_016872736.1:n.904-5494_904-5491del
XM_017017789.2:c.8531_8534del (ATM) XP_016873278.1:p.Ile2844SerfsTer12
XM_017017790.2:c.8531_8534del (ATM) XP_016873279.1:p.Ile2844SerfsTer12
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