Canonical Allele Identifier: CA382530325
Community Standard Title: NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108365196C>T , CM000673.2:g.108365196C>T GRCh38
NC_000011.9:g.108235923C>T , CM000673.1:g.108235923C>T GRCh37
NC_000011.8:g.107741133C>T NCBI36
NG_009830.1:g.147365C>T , LRG_135:g.147365C>T
NG_054724.1:g.109637G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8965C>T (ATM) MANE Select NP_000042.3:p.Gln2989Ter
ENST00000675843.1:c.8965C>T (ATM) MANE Select ENSP00000501606.1:p.Gln2989Ter
NM_000051.3:c.8965C>T , LRG_135t1:c.8965C>T (ATM) NP_000042.3:p.Gln2989Ter
NM_001330368.1:c.640+20724G>A (C11orf65) NP_001317297.1:n.640+20724G>A
NM_001330368.2:c.640+20724G>A (C11orf65) NP_001317297.1:n.640+20724G>A
NM_001351110.1:c.694+20724G>A (C11orf65) NP_001338039.1:n.694+20724G>A
NM_001351110.2:c.694+20724G>A (C11orf65) NP_001338039.1:n.694+20724G>A
NM_001351834.1:c.8965C>T (ATM) NP_001338763.1:p.Gln2989Ter
NM_001351834.2:c.8965C>T (ATM) NP_001338763.1:p.Gln2989Ter
NR_147053.2:n.1107-9087G>A (C11orf65)
NR_147053.3:n.1105-9087G>A (C11orf65)
ENST00000278616.8:c.8965C>T (ATM) ENSP00000278616.4:p.Gln2989Ter
ENST00000278616.9:c.8965C>T (ATM) ENSP00000278616.4:p.Gln2989Ter
ENST00000452508.6:c.8965C>T (ATM) ENSP00000388058.2:p.Gln2989Ter
ENST00000452508.7:c.8965C>T (ATM) ENSP00000388058.2:p.Gln2989Ter
ENST00000524755.5:c.226+28012G>A (C11orf65)
ENST00000524792.5:n.5180C>T (ATM)
ENST00000525178.5:n.453C>T (ATM)
ENST00000525729.5:c.640+20724G>A (C11orf65) ENSP00000433395.1:n.640+20724G>A
ENST00000526725.1:n.272-24832G>A (C11orf65)
ENST00000527181.1:n.304C>T (ATM)
ENST00000527531.5:c.*2-9087G>A (C11orf65) ENSP00000431706.1:n.*2-9087G>A
ENST00000527805.6:c.*4029C>T (ATM) ENSP00000435747.2:n.*4029C>T
ENST00000615746.4:c.*2-9087G>A (C11orf65) ENSP00000483537.1:n.*2-9087G>A
ENST00000638786.2:n.1663C>T (ATM)
ENST00000675595.1:c.*4100C>T (ATM) ENSP00000502563.1:n.*4100C>T
ENST00000682286.1:n.3722C>T (ATM)
ENST00000682302.1:n.3383C>T (ATM)
ENST00000682569.1:n.2312C>T (ATM)
ENST00000683174.1:n.10449C>T (ATM)
ENST00000683524.1:n.4189C>T (ATM)
ENST00000684152.1:n.4381C>T (ATM)
ENST00000684180.1:n.1439C>T (ATM)
ENST00000684447.1:n.5458C>T (ATM)
ENST00000713593.1:c.*8436C>T (ATM) ENSP00000518889.1:n.*8436C>T
XM_005271414.3:c.787+20724G>A (C11orf65) XP_005271471.1:n.787+20724G>A
XM_005271414.4:c.787+20724G>A (C11orf65) XP_005271471.1:n.787+20724G>A
XM_005271415.3:c.731+28012G>A (C11orf65) XP_005271472.1:n.731+28012G>A
XM_005271415.4:c.731+28012G>A (C11orf65) XP_005271472.1:n.731+28012G>A
XM_005271561.3:c.8965C>T (ATM) XP_005271618.2:p.Gln2989Ter
XM_005271562.3:c.8965C>T (ATM) XP_005271619.2:p.Gln2989Ter
XM_005271562.5:c.8965C>T (ATM) XP_005271619.2:p.Gln2989Ter
XM_006718843.2:c.8965C>T (ATM) XP_006718906.1:p.Gln2989Ter
XM_006718843.4:c.8965C>T (ATM) XP_006718906.1:p.Gln2989Ter
XM_006718845.1:c.4921C>T (ATM) XP_006718908.1:p.Gln1641Ter
XM_006718845.2:c.4921C>T (ATM) XP_006718908.1:p.Gln1641Ter
XM_011542640.1:c.787+20724G>A (C11orf65) XP_011540942.1:n.787+20724G>A
XM_011542640.2:c.787+20724G>A (C11orf65) XP_011540942.1:n.787+20724G>A
XM_011542642.1:c.732-16123G>A (C11orf65) XP_011540944.1:n.732-16123G>A
XM_011542643.1:c.732-24832G>A (C11orf65) XP_011540945.1:n.732-24832G>A
XM_011542643.2:c.732-24832G>A (C11orf65) XP_011540945.1:n.732-24832G>A
XM_011542840.1:c.8965C>T (ATM) XP_011541142.1:p.Gln2989Ter
XM_011542840.3:c.8965C>T (ATM) XP_011541142.1:p.Gln2989Ter
XM_011542841.1:c.8965C>T (ATM) XP_011541143.1:p.Gln2989Ter
XM_011542842.1:c.8800C>T (ATM) XP_011541144.1:p.Gln2934Ter
XM_011542842.3:c.8800C>T (ATM) XP_011541144.1:p.Gln2934Ter
XM_011542844.1:c.7921C>T (ATM) XP_011541146.1:p.Gln2641Ter
XM_011542844.3:c.7921C>T (ATM) XP_011541146.1:p.Gln2641Ter
XM_011542845.1:c.7657C>T (ATM) XP_011541147.1:p.Gln2553Ter
XM_011542845.2:c.7657C>T (ATM) XP_011541147.1:p.Gln2553Ter
XM_011542847.1:c.4036C>T (ATM) XP_011541149.1:p.Gln1346Ter
XM_017017247.1:c.903+17864G>A (C11orf65) XP_016872736.1:n.903+17864G>A
XM_017017789.2:c.8965C>T (ATM) XP_016873278.1:p.Gln2989Ter
XM_017017790.2:c.8965C>T (ATM) XP_016873279.1:p.Gln2989Ter