Canonical Allele Identifier: CA382560961
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331915A>C , CM000673.2:g.108331915A>C GRCh38
NC_000011.9:g.108202642A>C , CM000673.1:g.108202642A>C GRCh37
NC_000011.8:g.107707852A>C NCBI36
NG_009830.1:g.114084A>C , LRG_135:g.114084A>C
NG_054724.1:g.142918T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.7666A>C (ATM) ENSP00000388058.2:p.Thr2556Pro
ENST00000713593.1:c.*7137A>C (ATM) ENSP00000518889.1:n.*7137A>C
ENST00000278616.9:c.7666A>C (ATM) ENSP00000278616.4:p.Thr2556Pro
ENST00000525056.2:n.2085A>C (ATM)
ENST00000525537.3:n.623A>C (ATM)
ENST00000638786.2:n.503A>C (ATM)
ENST00000682286.1:n.2423A>C (ATM)
ENST00000682302.1:n.2084A>C (ATM)
ENST00000683174.1:n.9150A>C (ATM)
ENST00000683524.1:n.2890A>C (ATM)
ENST00000684152.1:n.3343+358A>C (ATM)
ENST00000684447.1:n.2450A>C (ATM)
ENST00000527805.6:c.*2730A>C (ATM) ENSP00000435747.2:n.*2730A>C
ENST00000675595.1:c.*2801A>C (ATM) ENSP00000502563.1:n.*2801A>C
ENST00000675843.1:c.7666A>C (ATM) MANE Select ENSP00000501606.1:p.Thr2556Pro
ENST00000278616.8:c.7666A>C (ATM) ENSP00000278616.4:p.Thr2556Pro
ENST00000452508.6:c.7666A>C (ATM) ENSP00000388058.2:p.Thr2556Pro
ENST00000524755.5:c.300-348T>G (C11orf65)
ENST00000524792.5:n.3881A>C (ATM)
ENST00000525729.5:c.641-22844T>G (C11orf65) ENSP00000433395.1:n.641-22844T>G
ENST00000527531.5:c.*1270-348T>G (C11orf65) ENSP00000431706.1:n.*1270-348T>G
ENST00000533690.5:n.3070A>C (ATM)
ENST00000615746.4:c.*1270-348T>G (C11orf65) ENSP00000483537.1:n.*1270-348T>G
NM_000051.3:c.7666A>C , LRG_135t1:c.7666A>C (ATM) NP_000042.3:p.Thr2556Pro
XM_005271414.3:c.*39-348T>G (C11orf65) XP_005271471.1:n.*39-348T>G
XM_005271415.3:c.805-348T>G (C11orf65) XP_005271472.1:n.805-348T>G
XM_005271561.3:c.7666A>C (ATM) XP_005271618.2:p.Thr2556Pro
XM_005271562.3:c.7666A>C (ATM) XP_005271619.2:p.Thr2556Pro
XM_006718843.2:c.7666A>C (ATM) XP_006718906.1:p.Thr2556Pro
XM_006718845.1:c.3622A>C (ATM) XP_006718908.1:p.Thr1208Pro
XM_011542840.1:c.7666A>C (ATM) XP_011541142.1:p.Thr2556Pro
XM_011542841.1:c.7666A>C (ATM) XP_011541143.1:p.Thr2556Pro
XM_011542842.1:c.7501A>C (ATM) XP_011541144.1:p.Thr2501Pro
XM_011542843.1:c.7666A>C (ATM) XP_011541145.1:p.Thr2556Pro
XM_011542844.1:c.6622A>C (ATM) XP_011541146.1:p.Thr2208Pro
XM_011542845.1:c.6358A>C (ATM) XP_011541147.1:p.Thr2120Pro
XM_011542847.1:c.2737A>C (ATM) XP_011541149.1:p.Thr913Pro
NM_001330368.1:c.641-22844T>G (C11orf65) NP_001317297.1:n.641-22844T>G
NM_001351110.1:c.*38+3305T>G (C11orf65) NP_001338039.1:n.*38+3305T>G
NM_001351834.1:c.7666A>C (ATM) NP_001338763.1:p.Thr2556Pro
NR_147053.2:n.2375-348T>G (C11orf65)
XM_005271414.4:c.*39-348T>G (C11orf65) XP_005271471.1:n.*39-348T>G
XM_005271415.4:c.805-348T>G (C11orf65) XP_005271472.1:n.805-348T>G
XM_005271562.5:c.7666A>C (ATM) XP_005271619.2:p.Thr2556Pro
XM_006718843.4:c.7666A>C (ATM) XP_006718906.1:p.Thr2556Pro
XM_006718845.2:c.3622A>C (ATM) XP_006718908.1:p.Thr1208Pro
XM_011542840.3:c.7666A>C (ATM) XP_011541142.1:p.Thr2556Pro
XM_011542842.3:c.7501A>C (ATM) XP_011541144.1:p.Thr2501Pro
XM_011542843.2:c.7666A>C (ATM) XP_011541145.1:p.Thr2556Pro
XM_011542844.3:c.6622A>C (ATM) XP_011541146.1:p.Thr2208Pro
XM_011542845.2:c.6358A>C (ATM) XP_011541147.1:p.Thr2120Pro
XM_017017789.2:c.7666A>C (ATM) XP_016873278.1:p.Thr2556Pro
XM_017017790.2:c.7666A>C (ATM) XP_016873279.1:p.Thr2556Pro
NM_001330368.2:c.641-22844T>G (C11orf65) NP_001317297.1:n.641-22844T>G
NM_001351110.2:c.*38+3305T>G (C11orf65) NP_001338039.1:n.*38+3305T>G
NM_001351834.2:c.7666A>C (ATM) NP_001338763.1:p.Thr2556Pro
NM_000051.4:c.7666A>C (ATM) MANE Select NP_000042.3:p.Thr2556Pro
NR_147053.3:n.2373-348T>G (C11orf65)