Canonical Allele Identifier: CA16619260
Community Standard Title: NM_000051.4(ATM):c.8530_8532dup (p.Ile2844dup)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108345854_108345856dup , CM000673.2:g.108345854_108345856dup GRCh38
NC_000011.9:g.108216581_108216583dup , CM000673.1:g.108216581_108216583dup GRCh37
NC_000011.8:g.107721791_107721793dup NCBI36
NG_009830.1:g.128023_128025dup , LRG_135:g.128023_128025dup
NG_054724.1:g.128978_128980dup

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8530_8532dup (ATM) MANE Select NP_000042.3:p.Ile2844_Trp2845insIle
ENST00000675843.1:c.8530_8532dup (ATM) MANE Select ENSP00000501606.1:p.Ile2844_Trp2845insIle
NM_000051.3:c.8530_8532dup , LRG_135t1:c.8530_8532dup (ATM) NP_000042.3:p.Ile2844_Trp2845insIle
NM_001330368.1:c.641-36784_641-36782dup (C11orf65) NP_001317297.1:n.641-36784_641-36782dup
NM_001330368.2:c.641-36784_641-36782dup (C11orf65) NP_001317297.1:n.641-36784_641-36782dup
NM_001351110.1:c.695-10563_695-10561dup (C11orf65) NP_001338039.1:n.695-10563_695-10561dup
NM_001351110.2:c.695-10563_695-10561dup (C11orf65) NP_001338039.1:n.695-10563_695-10561dup
NM_001351834.1:c.8530_8532dup (ATM) NP_001338763.1:p.Ile2844_Trp2845insIle
NM_001351834.2:c.8530_8532dup (ATM) NP_001338763.1:p.Ile2844_Trp2845insIle
NR_147053.2:n.2301+9060_2301+9062dup (C11orf65)
NR_147053.3:n.2299+9060_2299+9062dup (C11orf65)
ENST00000278616.8:c.8530_8532dup (ATM) ENSP00000278616.4:p.Ile2844_Trp2845insIle
ENST00000278616.9:c.8530_8532dup (ATM) ENSP00000278616.4:p.Ile2844_Trp2845insIle
ENST00000452508.6:c.8530_8532dup (ATM) ENSP00000388058.2:p.Ile2844_Trp2845insIle
ENST00000452508.7:c.8530_8532dup (ATM) ENSP00000388058.2:p.Ile2844_Trp2845insIle
ENST00000524755.5:c.227-10563_227-10561dup (C11orf65)
ENST00000524792.5:n.4745_4747dup (ATM)
ENST00000525729.5:c.641-36784_641-36782dup (C11orf65) ENSP00000433395.1:n.641-36784_641-36782dup
ENST00000526725.1:n.272-5491_272-5489dup (C11orf65)
ENST00000527531.5:c.*1196+9060_*1196+9062dup (C11orf65) ENSP00000431706.1:n.*1196+9060_*1196+9062dup
ENST00000527805.6:c.*3594_*3596dup (ATM) ENSP00000435747.2:n.*3594_*3596dup
ENST00000615746.4:c.*1196+9060_*1196+9062dup (C11orf65) ENSP00000483537.1:n.*1196+9060_*1196+9062dup
ENST00000638786.2:n.1228_1230dup (ATM)
ENST00000675595.1:c.*3665_*3667dup (ATM) ENSP00000502563.1:n.*3665_*3667dup
ENST00000682286.1:n.3287_3289dup (ATM)
ENST00000682302.1:n.2948_2950dup (ATM)
ENST00000683174.1:n.10014_10016dup (ATM)
ENST00000683524.1:n.3754_3756dup (ATM)
ENST00000684152.1:n.3946_3948dup (ATM)
ENST00000684180.1:n.1004_1006dup (ATM)
ENST00000684447.1:n.5023_5025dup (ATM)
ENST00000713593.1:c.*8001_*8003dup (ATM) ENSP00000518889.1:n.*8001_*8003dup
XM_005271414.3:c.788-10563_788-10561dup (C11orf65) XP_005271471.1:n.788-10563_788-10561dup
XM_005271414.4:c.788-10563_788-10561dup (C11orf65) XP_005271471.1:n.788-10563_788-10561dup
XM_005271415.3:c.732-10563_732-10561dup (C11orf65) XP_005271472.1:n.732-10563_732-10561dup
XM_005271415.4:c.732-10563_732-10561dup (C11orf65) XP_005271472.1:n.732-10563_732-10561dup
XM_005271561.3:c.8530_8532dup (ATM) XP_005271618.2:p.Ile2844_Trp2845insIle
XM_005271562.3:c.8530_8532dup (ATM) XP_005271619.2:p.Ile2844_Trp2845insIle
XM_005271562.5:c.8530_8532dup (ATM) XP_005271619.2:p.Ile2844_Trp2845insIle
XM_006718843.2:c.8530_8532dup (ATM) XP_006718906.1:p.Ile2844_Trp2845insIle
XM_006718843.4:c.8530_8532dup (ATM) XP_006718906.1:p.Ile2844_Trp2845insIle
XM_006718845.1:c.4486_4488dup (ATM) XP_006718908.1:p.Ile1496_Trp1497insIle
XM_006718845.2:c.4486_4488dup (ATM) XP_006718908.1:p.Ile1496_Trp1497insIle
XM_011542640.1:c.788-5491_788-5489dup (C11orf65) XP_011540942.1:n.788-5491_788-5489dup
XM_011542640.2:c.788-5491_788-5489dup (C11orf65) XP_011540942.1:n.788-5491_788-5489dup
XM_011542643.1:c.732-5491_732-5489dup (C11orf65) XP_011540945.1:n.732-5491_732-5489dup
XM_011542643.2:c.732-5491_732-5489dup (C11orf65) XP_011540945.1:n.732-5491_732-5489dup
XM_011542840.1:c.8530_8532dup (ATM) XP_011541142.1:p.Ile2844_Trp2845insIle
XM_011542840.3:c.8530_8532dup (ATM) XP_011541142.1:p.Ile2844_Trp2845insIle
XM_011542841.1:c.8530_8532dup (ATM) XP_011541143.1:p.Ile2844_Trp2845insIle
XM_011542842.1:c.8365_8367dup (ATM) XP_011541144.1:p.Ile2789_Trp2790insIle
XM_011542842.3:c.8365_8367dup (ATM) XP_011541144.1:p.Ile2789_Trp2790insIle
XM_011542843.1:c.8530_8532dup (ATM) XP_011541145.1:p.Ile2844_Trp2845insIle
XM_011542843.2:c.8530_8532dup (ATM) XP_011541145.1:p.Ile2844_Trp2845insIle
XM_011542844.1:c.7486_7488dup (ATM) XP_011541146.1:p.Ile2496_Trp2497insIle
XM_011542844.3:c.7486_7488dup (ATM) XP_011541146.1:p.Ile2496_Trp2497insIle
XM_011542845.1:c.7222_7224dup (ATM) XP_011541147.1:p.Ile2408_Trp2409insIle
XM_011542845.2:c.7222_7224dup (ATM) XP_011541147.1:p.Ile2408_Trp2409insIle
XM_011542847.1:c.3601_3603dup (ATM) XP_011541149.1:p.Ile1201_Trp1202insIle
XM_017017247.1:c.904-5491_904-5489dup (C11orf65) XP_016872736.1:n.904-5491_904-5489dup
XM_017017789.2:c.8530_8532dup (ATM) XP_016873278.1:p.Ile2844_Trp2845insIle
XM_017017790.2:c.8530_8532dup (ATM) XP_016873279.1:p.Ile2844_Trp2845insIle
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