Canonical Allele Identifier: CA382523791
Community Standard Title: NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108353806G>C , CM000673.2:g.108353806G>C GRCh38
NC_000011.9:g.108224533G>C , CM000673.1:g.108224533G>C GRCh37
NC_000011.8:g.107729743G>C NCBI36
NG_009830.1:g.135975G>C , LRG_135:g.135975G>C
NG_054724.1:g.121027C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8712G>C (ATM) MANE Select NP_000042.3:p.Glu2904Asp
ENST00000675843.1:c.8712G>C (ATM) MANE Select ENSP00000501606.1:p.Glu2904Asp
NM_000051.3:c.8712G>C , LRG_135t1:c.8712G>C (ATM) NP_000042.3:p.Glu2904Asp
NM_001330368.1:c.640+32114C>G (C11orf65) NP_001317297.1:n.640+32114C>G
NM_001330368.2:c.640+32114C>G (C11orf65) NP_001317297.1:n.640+32114C>G
NM_001351110.1:c.695-18514C>G (C11orf65) NP_001338039.1:n.695-18514C>G
NM_001351110.2:c.695-18514C>G (C11orf65) NP_001338039.1:n.695-18514C>G
NM_001351834.1:c.8712G>C (ATM) NP_001338763.1:p.Glu2904Asp
NM_001351834.2:c.8712G>C (ATM) NP_001338763.1:p.Glu2904Asp
NR_147053.2:n.2301+1109C>G (C11orf65)
NR_147053.3:n.2299+1109C>G (C11orf65)
ENST00000278616.8:c.8712G>C (ATM) ENSP00000278616.4:p.Glu2904Asp
ENST00000278616.9:c.8712G>C (ATM) ENSP00000278616.4:p.Glu2904Asp
ENST00000452508.6:c.8712G>C (ATM) ENSP00000388058.2:p.Glu2904Asp
ENST00000452508.7:c.8712G>C (ATM) ENSP00000388058.2:p.Glu2904Asp
ENST00000524755.5:c.227-18514C>G (C11orf65)
ENST00000524792.5:n.4927G>C (ATM)
ENST00000525178.5:n.200G>C (ATM)
ENST00000525729.5:c.640+32114C>G (C11orf65) ENSP00000433395.1:n.640+32114C>G
ENST00000526725.1:n.272-13442C>G (C11orf65)
ENST00000527181.1:n.51G>C (ATM)
ENST00000527531.5:c.*1196+1109C>G (C11orf65) ENSP00000431706.1:n.*1196+1109C>G
ENST00000527805.6:c.*3776G>C (ATM) ENSP00000435747.2:n.*3776G>C
ENST00000615746.4:c.*1196+1109C>G (C11orf65) ENSP00000483537.1:n.*1196+1109C>G
ENST00000638786.2:n.1410G>C (ATM)
ENST00000675595.1:c.*3847G>C (ATM) ENSP00000502563.1:n.*3847G>C
ENST00000682286.1:n.3469G>C (ATM)
ENST00000682302.1:n.3130G>C (ATM)
ENST00000683174.1:n.10196G>C (ATM)
ENST00000683524.1:n.3936G>C (ATM)
ENST00000684152.1:n.4128G>C (ATM)
ENST00000684180.1:n.1186G>C (ATM)
ENST00000684447.1:n.5205G>C (ATM)
ENST00000713593.1:c.*8183G>C (ATM) ENSP00000518889.1:n.*8183G>C
XM_005271414.3:c.788-18514C>G (C11orf65) XP_005271471.1:n.788-18514C>G
XM_005271414.4:c.788-18514C>G (C11orf65) XP_005271471.1:n.788-18514C>G
XM_005271415.3:c.732-18514C>G (C11orf65) XP_005271472.1:n.732-18514C>G
XM_005271415.4:c.732-18514C>G (C11orf65) XP_005271472.1:n.732-18514C>G
XM_005271561.3:c.8712G>C (ATM) XP_005271618.2:p.Glu2904Asp
XM_005271562.3:c.8712G>C (ATM) XP_005271619.2:p.Glu2904Asp
XM_005271562.5:c.8712G>C (ATM) XP_005271619.2:p.Glu2904Asp
XM_006718843.2:c.8712G>C (ATM) XP_006718906.1:p.Glu2904Asp
XM_006718843.4:c.8712G>C (ATM) XP_006718906.1:p.Glu2904Asp
XM_006718845.1:c.4668G>C (ATM) XP_006718908.1:p.Glu1556Asp
XM_006718845.2:c.4668G>C (ATM) XP_006718908.1:p.Glu1556Asp
XM_011542640.1:c.788-13442C>G (C11orf65) XP_011540942.1:n.788-13442C>G
XM_011542640.2:c.788-13442C>G (C11orf65) XP_011540942.1:n.788-13442C>G
XM_011542642.1:c.732-4733C>G (C11orf65) XP_011540944.1:n.732-4733C>G
XM_011542643.1:c.732-13442C>G (C11orf65) XP_011540945.1:n.732-13442C>G
XM_011542643.2:c.732-13442C>G (C11orf65) XP_011540945.1:n.732-13442C>G
XM_011542840.1:c.8712G>C (ATM) XP_011541142.1:p.Glu2904Asp
XM_011542840.3:c.8712G>C (ATM) XP_011541142.1:p.Glu2904Asp
XM_011542841.1:c.8712G>C (ATM) XP_011541143.1:p.Glu2904Asp
XM_011542842.1:c.8547G>C (ATM) XP_011541144.1:p.Glu2849Asp
XM_011542842.3:c.8547G>C (ATM) XP_011541144.1:p.Glu2849Asp
XM_011542844.1:c.7668G>C (ATM) XP_011541146.1:p.Glu2556Asp
XM_011542844.3:c.7668G>C (ATM) XP_011541146.1:p.Glu2556Asp
XM_011542845.1:c.7404G>C (ATM) XP_011541147.1:p.Glu2468Asp
XM_011542845.2:c.7404G>C (ATM) XP_011541147.1:p.Glu2468Asp
XM_011542847.1:c.3783G>C (ATM) XP_011541149.1:p.Glu1261Asp
XM_017017247.1:c.904-13442C>G (C11orf65) XP_016872736.1:n.904-13442C>G
XM_017017789.2:c.8712G>C (ATM) XP_016873278.1:p.Glu2904Asp
XM_017017790.2:c.8712G>C (ATM) XP_016873279.1:p.Glu2904Asp