Canonical Allele Identifier: CA2580083137
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335946dup , CM000673.2:g.108335946dup GRCh38
NC_000011.9:g.108206673dup , CM000673.1:g.108206673dup GRCh37
NC_000011.8:g.107711883dup NCBI36
NG_009830.1:g.118115dup , LRG_135:g.118115dup
NG_054724.1:g.138887dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8253dup (ATM) ENSP00000388058.2:p.Ile2752TyrfsTer5
ENST00000713593.1:c.*7724dup (ATM) ENSP00000518889.1:n.*7724dup
ENST00000278616.9:c.8253dup (ATM) ENSP00000278616.4:p.Ile2752TyrfsTer5
ENST00000525056.2:n.2672dup (ATM)
ENST00000638786.2:n.951dup (ATM)
ENST00000682286.1:n.3010dup (ATM)
ENST00000682302.1:n.2671dup (ATM)
ENST00000683174.1:n.9737dup (ATM)
ENST00000683524.1:n.3477dup (ATM)
ENST00000684152.1:n.3669dup (ATM)
ENST00000684180.1:n.727dup (ATM)
ENST00000684447.1:n.4746dup (ATM)
ENST00000527805.6:c.*3317dup (ATM) ENSP00000435747.2:n.*3317dup
ENST00000675595.1:c.*3388dup (ATM) ENSP00000502563.1:n.*3388dup
ENST00000675843.1:c.8253dup (ATM) MANE Select ENSP00000501606.1:p.Ile2752TyrfsTer5
ENST00000278616.8:c.8253dup (ATM) ENSP00000278616.4:p.Ile2752TyrfsTer5
ENST00000452508.6:c.8253dup (ATM) ENSP00000388058.2:p.Ile2752TyrfsTer5
ENST00000524755.5:c.227-654dup (C11orf65)
ENST00000524792.5:n.4468dup (ATM)
ENST00000525056.1:n.450dup (ATM)
ENST00000525729.5:c.641-26875dup (C11orf65) ENSP00000433395.1:n.641-26875dup
ENST00000527531.5:c.*1197-654dup (C11orf65) ENSP00000431706.1:n.*1197-654dup
ENST00000533979.5:n.465dup (ATM)
ENST00000615746.4:c.*1197-654dup (C11orf65) ENSP00000483537.1:n.*1197-654dup
NM_000051.3:c.8253dup , LRG_135t1:c.8253dup (ATM) NP_000042.3:p.Ile2752TyrfsTer5
XM_005271414.3:c.788-654dup (C11orf65) XP_005271471.1:n.788-654dup
XM_005271415.3:c.732-654dup (C11orf65) XP_005271472.1:n.732-654dup
XM_005271561.3:c.8253dup (ATM) XP_005271618.2:p.Ile2752TyrfsTer5
XM_005271562.3:c.8253dup (ATM) XP_005271619.2:p.Ile2752TyrfsTer5
XM_006718843.2:c.8253dup (ATM) XP_006718906.1:p.Ile2752TyrfsTer5
XM_006718845.1:c.4209dup (ATM) XP_006718908.1:p.Ile1404TyrfsTer5
XM_011542840.1:c.8253dup (ATM) XP_011541142.1:p.Ile2752TyrfsTer5
XM_011542841.1:c.8253dup (ATM) XP_011541143.1:p.Ile2752TyrfsTer5
XM_011542842.1:c.8088dup (ATM) XP_011541144.1:p.Ile2697TyrfsTer5
XM_011542843.1:c.8253dup (ATM) XP_011541145.1:p.Ile2752TyrfsTer5
XM_011542844.1:c.7209dup (ATM) XP_011541146.1:p.Ile2404TyrfsTer5
XM_011542845.1:c.6945dup (ATM) XP_011541147.1:p.Ile2316TyrfsTer5
XM_011542847.1:c.3324dup (ATM) XP_011541149.1:p.Ile1109TyrfsTer5
NM_001330368.1:c.641-26875dup (C11orf65) NP_001317297.1:n.641-26875dup
NM_001351110.1:c.695-654dup (C11orf65) NP_001338039.1:n.695-654dup
NM_001351834.1:c.8253dup (ATM) NP_001338763.1:p.Ile2752TyrfsTer5
NR_147053.2:n.2302-654dup (C11orf65)
XM_005271414.4:c.788-654dup (C11orf65) XP_005271471.1:n.788-654dup
XM_005271415.4:c.732-654dup (C11orf65) XP_005271472.1:n.732-654dup
XM_005271562.5:c.8253dup (ATM) XP_005271619.2:p.Ile2752TyrfsTer5
XM_006718843.4:c.8253dup (ATM) XP_006718906.1:p.Ile2752TyrfsTer5
XM_006718845.2:c.4209dup (ATM) XP_006718908.1:p.Ile1404TyrfsTer5
XM_011542840.3:c.8253dup (ATM) XP_011541142.1:p.Ile2752TyrfsTer5
XM_011542842.3:c.8088dup (ATM) XP_011541144.1:p.Ile2697TyrfsTer5
XM_011542843.2:c.8253dup (ATM) XP_011541145.1:p.Ile2752TyrfsTer5
XM_011542844.3:c.7209dup (ATM) XP_011541146.1:p.Ile2404TyrfsTer5
XM_011542845.2:c.6945dup (ATM) XP_011541147.1:p.Ile2316TyrfsTer5
XM_017017789.2:c.8253dup (ATM) XP_016873278.1:p.Ile2752TyrfsTer5
XM_017017790.2:c.8253dup (ATM) XP_016873279.1:p.Ile2752TyrfsTer5
NM_001330368.2:c.641-26875dup (C11orf65) NP_001317297.1:n.641-26875dup
NM_001351110.2:c.695-654dup (C11orf65) NP_001338039.1:n.695-654dup
NM_001351834.2:c.8253dup (ATM) NP_001338763.1:p.Ile2752TyrfsTer5
NM_000051.4:c.8253dup (ATM) MANE Select NP_000042.3:p.Ile2752TyrfsTer5
NR_147053.3:n.2300-654dup (C11orf65)