Canonical Allele Identifier: CA645598123
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332890del , CM000673.2:g.108332890del GRCh38
NC_000011.9:g.108203617del , CM000673.1:g.108203617del GRCh37
NC_000011.8:g.107708827del NCBI36
NG_009830.1:g.115059del , LRG_135:g.115059del
NG_054724.1:g.141943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7917del (ATM) ENSP00000388058.2:p.Thr2640LeufsTer6
ENST00000713593.1:c.*7388del (ATM) ENSP00000518889.1:n.*7388del
ENST00000278616.9:c.7917del (ATM) ENSP00000278616.4:p.Thr2640LeufsTer6
ENST00000525056.2:n.2336del (ATM)
ENST00000525537.3:n.1598del (ATM)
ENST00000638786.2:n.625+853del (ATM)
ENST00000682286.1:n.2674del (ATM)
ENST00000682302.1:n.2335del (ATM)
ENST00000683174.1:n.9401del (ATM)
ENST00000683524.1:n.3141del (ATM)
ENST00000684152.1:n.3344-996del (ATM)
ENST00000684180.1:n.391del (ATM)
ENST00000684447.1:n.3425del (ATM)
ENST00000527805.6:c.*2981del (ATM) ENSP00000435747.2:n.*2981del
ENST00000675595.1:c.*3052del (ATM) ENSP00000502563.1:n.*3052del
ENST00000675843.1:c.7917del (ATM) MANE Select ENSP00000501606.1:p.Thr2640LeufsTer6
ENST00000278616.8:c.7917del (ATM) ENSP00000278616.4:p.Thr2640LeufsTer6
ENST00000452508.6:c.7917del (ATM) ENSP00000388058.2:p.Thr2640LeufsTer6
ENST00000524755.5:c.300-1323del (C11orf65)
ENST00000524792.5:n.4132del (ATM)
ENST00000525056.1:n.114del (ATM)
ENST00000525729.5:c.641-23819del (C11orf65) ENSP00000433395.1:n.641-23819del
ENST00000527531.5:c.*1270-1323del (C11orf65) ENSP00000431706.1:n.*1270-1323del
ENST00000533690.5:n.3321del (ATM)
ENST00000533979.5:n.129del (ATM)
ENST00000615746.4:c.*1270-1323del (C11orf65) ENSP00000483537.1:n.*1270-1323del
NM_000051.3:c.7917del , LRG_135t1:c.7917del (ATM) NP_000042.3:p.Thr2640LeufsTer6
XM_005271414.3:c.*39-1323del (C11orf65) XP_005271471.1:n.*39-1323del
XM_005271415.3:c.805-1323del (C11orf65) XP_005271472.1:n.805-1323del
XM_005271561.3:c.7917del (ATM) XP_005271618.2:p.Thr2640LeufsTer6
XM_005271562.3:c.7917del (ATM) XP_005271619.2:p.Thr2640LeufsTer6
XM_006718843.2:c.7917del (ATM) XP_006718906.1:p.Thr2640LeufsTer6
XM_006718845.1:c.3873del (ATM) XP_006718908.1:p.Thr1292LeufsTer6
XM_011542840.1:c.7917del (ATM) XP_011541142.1:p.Thr2640LeufsTer6
XM_011542841.1:c.7917del (ATM) XP_011541143.1:p.Thr2640LeufsTer6
XM_011542842.1:c.7752del (ATM) XP_011541144.1:p.Thr2585LeufsTer6
XM_011542843.1:c.7917del (ATM) XP_011541145.1:p.Thr2640LeufsTer6
XM_011542844.1:c.6873del (ATM) XP_011541146.1:p.Thr2292LeufsTer6
XM_011542845.1:c.6609del (ATM) XP_011541147.1:p.Thr2204LeufsTer6
XM_011542847.1:c.2988del (ATM) XP_011541149.1:p.Thr997LeufsTer6
NM_001330368.1:c.641-23819del (C11orf65) NP_001317297.1:n.641-23819del
NM_001351110.1:c.*38+2330del (C11orf65) NP_001338039.1:n.*38+2330del
NM_001351834.1:c.7917del (ATM) NP_001338763.1:p.Thr2640LeufsTer6
NR_147053.2:n.2375-1323del (C11orf65)
XM_005271414.4:c.*39-1323del (C11orf65) XP_005271471.1:n.*39-1323del
XM_005271415.4:c.805-1323del (C11orf65) XP_005271472.1:n.805-1323del
XM_005271562.5:c.7917del (ATM) XP_005271619.2:p.Thr2640LeufsTer6
XM_006718843.4:c.7917del (ATM) XP_006718906.1:p.Thr2640LeufsTer6
XM_006718845.2:c.3873del (ATM) XP_006718908.1:p.Thr1292LeufsTer6
XM_011542840.3:c.7917del (ATM) XP_011541142.1:p.Thr2640LeufsTer6
XM_011542842.3:c.7752del (ATM) XP_011541144.1:p.Thr2585LeufsTer6
XM_011542843.2:c.7917del (ATM) XP_011541145.1:p.Thr2640LeufsTer6
XM_011542844.3:c.6873del (ATM) XP_011541146.1:p.Thr2292LeufsTer6
XM_011542845.2:c.6609del (ATM) XP_011541147.1:p.Thr2204LeufsTer6
XM_017017789.2:c.7917del (ATM) XP_016873278.1:p.Thr2640LeufsTer6
XM_017017790.2:c.7917del (ATM) XP_016873279.1:p.Thr2640LeufsTer6
NM_001330368.2:c.641-23819del (C11orf65) NP_001317297.1:n.641-23819del
NM_001351110.2:c.*38+2330del (C11orf65) NP_001338039.1:n.*38+2330del
NM_001351834.2:c.7917del (ATM) NP_001338763.1:p.Thr2640LeufsTer6
NM_000051.4:c.7917del (ATM) MANE Select NP_000042.3:p.Thr2640LeufsTer6
NR_147053.3:n.2373-1323del (C11orf65)