Canonical Allele Identifier: CA382559455
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108329057A>G , CM000673.2:g.108329057A>G GRCh38
NC_000011.9:g.108199784A>G , CM000673.1:g.108199784A>G GRCh37
NC_000011.8:g.107704994A>G NCBI36
NG_009830.1:g.111226A>G , LRG_135:g.111226A>G
NG_054724.1:g.145776T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7126A>G (ATM) ENSP00000388058.2:p.Ser2376Gly
ENST00000713593.1:c.*6597A>G (ATM) ENSP00000518889.1:n.*6597A>G
ENST00000278616.9:c.7126A>G (ATM) ENSP00000278616.4:p.Ser2376Gly
ENST00000525056.2:n.1545A>G (ATM)
ENST00000525537.3:n.83A>G (ATM)
ENST00000682286.1:n.1883A>G (ATM)
ENST00000682302.1:n.1544A>G (ATM)
ENST00000683174.1:n.8610A>G (ATM)
ENST00000683524.1:n.2350A>G (ATM)
ENST00000684152.1:n.2840A>G (ATM)
ENST00000684447.1:n.1589A>G (ATM)
ENST00000527805.6:c.*2190A>G (ATM) ENSP00000435747.2:n.*2190A>G
ENST00000675595.1:c.*2261A>G (ATM) ENSP00000502563.1:n.*2261A>G
ENST00000675843.1:c.7126A>G (ATM) MANE Select ENSP00000501606.1:p.Ser2376Gly
ENST00000278616.8:c.7126A>G (ATM) ENSP00000278616.4:p.Ser2376Gly
ENST00000452508.6:c.7126A>G (ATM) ENSP00000388058.2:p.Ser2376Gly
ENST00000524792.5:n.3341A>G (ATM)
ENST00000525537.2:n.402A>G (ATM)
ENST00000525729.5:c.641-19986T>C (C11orf65) ENSP00000433395.1:n.641-19986T>C
ENST00000527389.2:n.151A>G (ATM)
ENST00000533690.5:n.2530A>G (ATM)
NM_000051.3:c.7126A>G , LRG_135t1:c.7126A>G (ATM) NP_000042.3:p.Ser2376Gly
XM_005271561.3:c.7126A>G (ATM) XP_005271618.2:p.Ser2376Gly
XM_005271562.3:c.7126A>G (ATM) XP_005271619.2:p.Ser2376Gly
XM_006718843.2:c.7126A>G (ATM) XP_006718906.1:p.Ser2376Gly
XM_006718845.1:c.3082A>G (ATM) XP_006718908.1:p.Ser1028Gly
XM_011542840.1:c.7126A>G (ATM) XP_011541142.1:p.Ser2376Gly
XM_011542841.1:c.7126A>G (ATM) XP_011541143.1:p.Ser2376Gly
XM_011542842.1:c.6961A>G (ATM) XP_011541144.1:p.Ser2321Gly
XM_011542843.1:c.7126A>G (ATM) XP_011541145.1:p.Ser2376Gly
XM_011542844.1:c.6082A>G (ATM) XP_011541146.1:p.Ser2028Gly
XM_011542845.1:c.5818A>G (ATM) XP_011541147.1:p.Ser1940Gly
XM_011542847.1:c.2197A>G (ATM) XP_011541149.1:p.Ser733Gly
NM_001330368.1:c.641-19986T>C (C11orf65) NP_001317297.1:n.641-19986T>C
NM_001351110.1:c.*38+6163T>C (C11orf65) NP_001338039.1:n.*38+6163T>C
NM_001351834.1:c.7126A>G (ATM) NP_001338763.1:p.Ser2376Gly
XM_005271562.5:c.7126A>G (ATM) XP_005271619.2:p.Ser2376Gly
XM_006718843.4:c.7126A>G (ATM) XP_006718906.1:p.Ser2376Gly
XM_006718845.2:c.3082A>G (ATM) XP_006718908.1:p.Ser1028Gly
XM_011542840.3:c.7126A>G (ATM) XP_011541142.1:p.Ser2376Gly
XM_011542842.3:c.6961A>G (ATM) XP_011541144.1:p.Ser2321Gly
XM_011542843.2:c.7126A>G (ATM) XP_011541145.1:p.Ser2376Gly
XM_011542844.3:c.6082A>G (ATM) XP_011541146.1:p.Ser2028Gly
XM_011542845.2:c.5818A>G (ATM) XP_011541147.1:p.Ser1940Gly
XM_017017789.2:c.7126A>G (ATM) XP_016873278.1:p.Ser2376Gly
XM_017017790.2:c.7126A>G (ATM) XP_016873279.1:p.Ser2376Gly
NM_001330368.2:c.641-19986T>C (C11orf65) NP_001317297.1:n.641-19986T>C
NM_001351110.2:c.*38+6163T>C (C11orf65) NP_001338039.1:n.*38+6163T>C
NM_001351834.2:c.7126A>G (ATM) NP_001338763.1:p.Ser2376Gly
NM_000051.4:c.7126A>G (ATM) MANE Select NP_000042.3:p.Ser2376Gly