Canonical Allele Identifier: CA2793549937
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335057_108335058insCACACCCAACAC , CM000673.2:g.108335057_108335058insCACACCCAACAC GRCh38
NC_000011.9:g.108205784_108205785insCACACCCAACAC , CM000673.1:g.108205784_108205785insCACACCCAACAC GRCh37
NC_000011.8:g.107710994_107710995insCACACCCAACAC NCBI36
NG_009830.1:g.117226_117227insCACACCCAACAC , LRG_135:g.117226_117227insCACACCCAACAC
NG_054724.1:g.139775_139776insGTGTTGGGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8099_8100insCACACCCAACAC (ATM) ENSP00000388058.2:p.Lys2700delinsAsnThrProAsnThr
ENST00000713593.1:c.*7570_*7571insCACACCCAACAC (ATM) ENSP00000518889.1:n.*7570_*7571insCACACCCAACAC
ENST00000278616.9:c.8099_8100insCACACCCAACAC (ATM) ENSP00000278616.4:p.Lys2700delinsAsnThrProAsnThr
ENST00000525056.2:n.2518_2519insCACACCCAACAC (ATM)
ENST00000638786.2:n.797_798insCACACCCAACAC (ATM)
ENST00000682286.1:n.2856_2857insCACACCCAACAC (ATM)
ENST00000682302.1:n.2517_2518insCACACCCAACAC (ATM)
ENST00000683174.1:n.9583_9584insCACACCCAACAC (ATM)
ENST00000683524.1:n.3323_3324insCACACCCAACAC (ATM)
ENST00000684152.1:n.3515_3516insCACACCCAACAC (ATM)
ENST00000684180.1:n.573_574insCACACCCAACAC (ATM)
ENST00000684447.1:n.4592_4593insCACACCCAACAC (ATM)
ENST00000527805.6:c.*3163_*3164insCACACCCAACAC (ATM) ENSP00000435747.2:n.*3163_*3164insCACACCCAACAC
ENST00000675595.1:c.*3234_*3235insCACACCCAACAC (ATM) ENSP00000502563.1:n.*3234_*3235insCACACCCAACAC
ENST00000675843.1:c.8099_8100insCACACCCAACAC (ATM) MANE Select ENSP00000501606.1:p.Lys2700delinsAsnThrProAsnThr
ENST00000278616.8:c.8099_8100insCACACCCAACAC (ATM) ENSP00000278616.4:p.Lys2700delinsAsnThrProAsnThr
ENST00000452508.6:c.8099_8100insCACACCCAACAC (ATM) ENSP00000388058.2:p.Lys2700delinsAsnThrProAsnThr
ENST00000524755.5:c.299+162_299+163insGTGTTGGGTGTG (C11orf65)
ENST00000524792.5:n.4314_4315insCACACCCAACAC (ATM)
ENST00000525056.1:n.296_297insCACACCCAACAC (ATM)
ENST00000525729.5:c.641-25987_641-25986insGTGTTGGGTGTG (C11orf65) ENSP00000433395.1:n.641-25987_641-25986insGTGTTGGGTGTG
ENST00000527531.5:c.*1269+162_*1269+163insGTGTTGGGTGTG (C11orf65) ENSP00000431706.1:n.*1269+162_*1269+163insGTGTTGGGTGTG
ENST00000533979.5:n.311_312insCACACCCAACAC (ATM)
ENST00000615746.4:c.*1269+162_*1269+163insGTGTTGGGTGTG (C11orf65) ENSP00000483537.1:n.*1269+162_*1269+163insGTGTTGGGTGTG
NM_000051.3:c.8099_8100insCACACCCAACAC , LRG_135t1:c.8099_8100insCACACCCAACAC (ATM) NP_000042.3:p.Lys2700delinsAsnThrProAsnThr
XM_005271414.3:c.*38+162_*38+163insGTGTTGGGTGTG (C11orf65) XP_005271471.1:n.*38+162_*38+163insGTGTTGGGTGTG
XM_005271415.3:c.804+162_804+163insGTGTTGGGTGTG (C11orf65) XP_005271472.1:n.804+162_804+163insGTGTTGGGTGTG
XM_005271561.3:c.8099_8100insCACACCCAACAC (ATM) XP_005271618.2:p.Lys2700delinsAsnThrProAsnThr
XM_005271562.3:c.8099_8100insCACACCCAACAC (ATM) XP_005271619.2:p.Lys2700delinsAsnThrProAsnThr
XM_006718843.2:c.8099_8100insCACACCCAACAC (ATM) XP_006718906.1:p.Lys2700delinsAsnThrProAsnThr
XM_006718845.1:c.4055_4056insCACACCCAACAC (ATM) XP_006718908.1:p.Lys1352delinsAsnThrProAsnThr
XM_011542840.1:c.8099_8100insCACACCCAACAC (ATM) XP_011541142.1:p.Lys2700delinsAsnThrProAsnThr
XM_011542841.1:c.8099_8100insCACACCCAACAC (ATM) XP_011541143.1:p.Lys2700delinsAsnThrProAsnThr
XM_011542842.1:c.7934_7935insCACACCCAACAC (ATM) XP_011541144.1:p.Lys2645delinsAsnThrProAsnThr
XM_011542843.1:c.8099_8100insCACACCCAACAC (ATM) XP_011541145.1:p.Lys2700delinsAsnThrProAsnThr
XM_011542844.1:c.7055_7056insCACACCCAACAC (ATM) XP_011541146.1:p.Lys2352delinsAsnThrProAsnThr
XM_011542845.1:c.6791_6792insCACACCCAACAC (ATM) XP_011541147.1:p.Lys2264delinsAsnThrProAsnThr
XM_011542847.1:c.3170_3171insCACACCCAACAC (ATM) XP_011541149.1:p.Lys1057delinsAsnThrProAsnThr
NM_001330368.1:c.641-25987_641-25986insGTGTTGGGTGTG (C11orf65) NP_001317297.1:n.641-25987_641-25986insGTGTTGGGTGTG
NM_001351110.1:c.*38+162_*38+163insGTGTTGGGTGTG (C11orf65) NP_001338039.1:n.*38+162_*38+163insGTGTTGGGTGTG
NM_001351834.1:c.8099_8100insCACACCCAACAC (ATM) NP_001338763.1:p.Lys2700delinsAsnThrProAsnThr
NR_147053.2:n.2374+162_2374+163insGTGTTGGGTGTG (C11orf65)
XM_005271414.4:c.*38+162_*38+163insGTGTTGGGTGTG (C11orf65) XP_005271471.1:n.*38+162_*38+163insGTGTTGGGTGTG
XM_005271415.4:c.804+162_804+163insGTGTTGGGTGTG (C11orf65) XP_005271472.1:n.804+162_804+163insGTGTTGGGTGTG
XM_005271562.5:c.8099_8100insCACACCCAACAC (ATM) XP_005271619.2:p.Lys2700delinsAsnThrProAsnThr
XM_006718843.4:c.8099_8100insCACACCCAACAC (ATM) XP_006718906.1:p.Lys2700delinsAsnThrProAsnThr
XM_006718845.2:c.4055_4056insCACACCCAACAC (ATM) XP_006718908.1:p.Lys1352delinsAsnThrProAsnThr
XM_011542840.3:c.8099_8100insCACACCCAACAC (ATM) XP_011541142.1:p.Lys2700delinsAsnThrProAsnThr
XM_011542842.3:c.7934_7935insCACACCCAACAC (ATM) XP_011541144.1:p.Lys2645delinsAsnThrProAsnThr
XM_011542843.2:c.8099_8100insCACACCCAACAC (ATM) XP_011541145.1:p.Lys2700delinsAsnThrProAsnThr
XM_011542844.3:c.7055_7056insCACACCCAACAC (ATM) XP_011541146.1:p.Lys2352delinsAsnThrProAsnThr
XM_011542845.2:c.6791_6792insCACACCCAACAC (ATM) XP_011541147.1:p.Lys2264delinsAsnThrProAsnThr
XM_017017789.2:c.8099_8100insCACACCCAACAC (ATM) XP_016873278.1:p.Lys2700delinsAsnThrProAsnThr
XM_017017790.2:c.8099_8100insCACACCCAACAC (ATM) XP_016873279.1:p.Lys2700delinsAsnThrProAsnThr
NM_001330368.2:c.641-25987_641-25986insGTGTTGGGTGTG (C11orf65) NP_001317297.1:n.641-25987_641-25986insGTGTTGGGTGTG
NM_001351110.2:c.*38+162_*38+163insGTGTTGGGTGTG (C11orf65) NP_001338039.1:n.*38+162_*38+163insGTGTTGGGTGTG
NM_001351834.2:c.8099_8100insCACACCCAACAC (ATM) NP_001338763.1:p.Lys2700delinsAsnThrProAsnThr
NM_000051.4:c.8099_8100insCACACCCAACAC (ATM) MANE Select NP_000042.3:p.Lys2700delinsAsnThrProAsnThr
NR_147053.3:n.2372+162_2372+163insGTGTTGGGTGTG (C11orf65)