Canonical Allele Identifier: CA1630855349
Community Standard Title: NM_000051.4(ATM):c.*3393G=
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108368901G= , CM000673.2:g.108368901G= GRCh38
NC_000011.9:g.108239628G= , CM000673.1:g.108239628G= GRCh37
NC_000011.8:g.107744838G= NCBI36
NG_009830.1:g.151070G= , LRG_135:g.151070G=
NG_054724.1:g.105932C=

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.*3393G= (ATM) MANE Select NP_000042.3:n.*3393G=
ENST00000675843.1:c.*3393G= (ATM) MANE Select ENSP00000501606.1:n.*3393G=
NM_000051.3:c.*3393G= , LRG_135t1:c.*3393G= (ATM) NP_000042.3:n.*3393G=
NM_001330368.1:c.640+17019C= (C11orf65) NP_001317297.1:n.640+17019C=
NM_001330368.2:c.640+17019C= (C11orf65) NP_001317297.1:n.640+17019C=
NM_001351110.1:c.694+17019C= (C11orf65) NP_001338039.1:n.694+17019C=
NM_001351110.2:c.694+17019C= (C11orf65) NP_001338039.1:n.694+17019C=
NM_001351834.1:c.*3393G= (ATM) NP_001338763.1:n.*3393G=
NM_001351834.2:c.*3393G= (ATM) NP_001338763.1:n.*3393G=
NR_147053.2:n.1107-12792C= (C11orf65)
NR_147053.3:n.1105-12792C= (C11orf65)
ENST00000278616.8:c.*3393G= (ATM) ENSP00000278616.4:n.*3393G=
ENST00000278616.9:c.*3100G= (ATM) ENSP00000278616.4:n.*3100G=
ENST00000452508.6:c.*3393G= (ATM) ENSP00000388058.2:n.*3393G=
ENST00000452508.7:c.*3393G= (ATM) ENSP00000388058.2:n.*3393G=
ENST00000524755.5:c.226+24307C= (C11orf65)
ENST00000525729.5:c.640+17019C= (C11orf65) ENSP00000433395.1:n.640+17019C=
ENST00000526725.1:n.271+24307C= (C11orf65)
ENST00000527531.5:c.*2-12792C= (C11orf65) ENSP00000431706.1:n.*2-12792C=
ENST00000615746.4:c.*2-12792C= (C11orf65) ENSP00000483537.1:n.*2-12792C=
ENST00000713593.1:c.*12035G= (ATM) ENSP00000518889.1:n.*12035G=
XM_005271414.3:c.787+17019C= (C11orf65) XP_005271471.1:n.787+17019C=
XM_005271414.4:c.787+17019C= (C11orf65) XP_005271471.1:n.787+17019C=
XM_005271415.3:c.731+24307C= (C11orf65) XP_005271472.1:n.731+24307C=
XM_005271415.4:c.731+24307C= (C11orf65) XP_005271472.1:n.731+24307C=
XM_005271561.3:c.*3393G= (ATM) XP_005271618.2:n.*3393G=
XM_005271562.3:c.*3393G= (ATM) XP_005271619.2:n.*3393G=
XM_006718843.2:c.*3393G= (ATM) XP_006718906.1:n.*3393G=
XM_006718845.1:c.*3393G= (ATM) XP_006718908.1:n.*3393G=
XM_011542640.1:c.787+17019C= (C11orf65) XP_011540942.1:n.787+17019C=
XM_011542640.2:c.787+17019C= (C11orf65) XP_011540942.1:n.787+17019C=
XM_011542642.1:c.732-19828C= (C11orf65) XP_011540944.1:n.732-19828C=
XM_011542643.1:c.731+24307C= (C11orf65) XP_011540945.1:n.731+24307C=
XM_011542643.2:c.731+24307C= (C11orf65) XP_011540945.1:n.731+24307C=
XM_011542840.1:c.*3393G= (ATM) XP_011541142.1:n.*3393G=
XM_011542841.1:c.*3393G= (ATM) XP_011541143.1:n.*3393G=
XM_011542842.1:c.*3393G= (ATM) XP_011541144.1:n.*3393G=
XM_011542844.1:c.*3393G= (ATM) XP_011541146.1:n.*3393G=
XM_011542845.1:c.*3393G= (ATM) XP_011541147.1:n.*3393G=
XM_011542847.1:c.*3393G= (ATM) XP_011541149.1:n.*3393G=
XM_017017247.1:c.903+14159C= (C11orf65) XP_016872736.1:n.903+14159C=