Canonical Allele Identifier: CA1998812777
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335901T= , CM000673.2:g.108335901T= GRCh38
NC_000011.9:g.108206628T= , CM000673.1:g.108206628T= GRCh37
NC_000011.8:g.107711838T= NCBI36
NG_009830.1:g.118070T= , LRG_135:g.118070T=
NG_054724.1:g.138932A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8208T= (ATM) ENSP00000388058.2:p.Asn2736=
ENST00000713593.1:c.*7679T= (ATM) ENSP00000518889.1:n.*7679T=
ENST00000278616.9:c.8208T= (ATM) ENSP00000278616.4:p.Asn2736=
ENST00000525056.2:n.2627T= (ATM)
ENST00000638786.2:n.906T= (ATM)
ENST00000682286.1:n.2965T= (ATM)
ENST00000682302.1:n.2626T= (ATM)
ENST00000683174.1:n.9692T= (ATM)
ENST00000683524.1:n.3432T= (ATM)
ENST00000684152.1:n.3624T= (ATM)
ENST00000684180.1:n.682T= (ATM)
ENST00000684447.1:n.4701T= (ATM)
ENST00000527805.6:c.*3272T= (ATM) ENSP00000435747.2:n.*3272T=
ENST00000675595.1:c.*3343T= (ATM) ENSP00000502563.1:n.*3343T=
ENST00000675843.1:c.8208T= (ATM) MANE Select ENSP00000501606.1:p.Asn2736=
ENST00000278616.8:c.8208T= (ATM) ENSP00000278616.4:p.Asn2736=
ENST00000452508.6:c.8208T= (ATM) ENSP00000388058.2:p.Asn2736=
ENST00000524755.5:c.227-609A= (C11orf65)
ENST00000524792.5:n.4423T= (ATM)
ENST00000525056.1:n.405T= (ATM)
ENST00000525729.5:c.641-26830A= (C11orf65) ENSP00000433395.1:n.641-26830A=
ENST00000527531.5:c.*1197-609A= (C11orf65) ENSP00000431706.1:n.*1197-609A=
ENST00000533979.5:n.420T= (ATM)
ENST00000615746.4:c.*1197-609A= (C11orf65) ENSP00000483537.1:n.*1197-609A=
NM_000051.3:c.8208T= , LRG_135t1:c.8208T= (ATM) NP_000042.3:p.Asn2736=
XM_005271414.3:c.788-609A= (C11orf65) XP_005271471.1:n.788-609A=
XM_005271415.3:c.732-609A= (C11orf65) XP_005271472.1:n.732-609A=
XM_005271561.3:c.8208T= (ATM) XP_005271618.2:p.Asn2736=
XM_005271562.3:c.8208T= (ATM) XP_005271619.2:p.Asn2736=
XM_006718843.2:c.8208T= (ATM) XP_006718906.1:p.Asn2736=
XM_006718845.1:c.4164T= (ATM) XP_006718908.1:p.Asn1388=
XM_011542840.1:c.8208T= (ATM) XP_011541142.1:p.Asn2736=
XM_011542841.1:c.8208T= (ATM) XP_011541143.1:p.Asn2736=
XM_011542842.1:c.8043T= (ATM) XP_011541144.1:p.Asn2681=
XM_011542843.1:c.8208T= (ATM) XP_011541145.1:p.Asn2736=
XM_011542844.1:c.7164T= (ATM) XP_011541146.1:p.Asn2388=
XM_011542845.1:c.6900T= (ATM) XP_011541147.1:p.Asn2300=
XM_011542847.1:c.3279T= (ATM) XP_011541149.1:p.Asn1093=
NM_001330368.1:c.641-26830A= (C11orf65) NP_001317297.1:n.641-26830A=
NM_001351110.1:c.695-609A= (C11orf65) NP_001338039.1:n.695-609A=
NM_001351834.1:c.8208T= (ATM) NP_001338763.1:p.Asn2736=
NR_147053.2:n.2302-609A= (C11orf65)
XM_005271414.4:c.788-609A= (C11orf65) XP_005271471.1:n.788-609A=
XM_005271415.4:c.732-609A= (C11orf65) XP_005271472.1:n.732-609A=
XM_005271562.5:c.8208T= (ATM) XP_005271619.2:p.Asn2736=
XM_006718843.4:c.8208T= (ATM) XP_006718906.1:p.Asn2736=
XM_006718845.2:c.4164T= (ATM) XP_006718908.1:p.Asn1388=
XM_011542840.3:c.8208T= (ATM) XP_011541142.1:p.Asn2736=
XM_011542842.3:c.8043T= (ATM) XP_011541144.1:p.Asn2681=
XM_011542843.2:c.8208T= (ATM) XP_011541145.1:p.Asn2736=
XM_011542844.3:c.7164T= (ATM) XP_011541146.1:p.Asn2388=
XM_011542845.2:c.6900T= (ATM) XP_011541147.1:p.Asn2300=
XM_017017789.2:c.8208T= (ATM) XP_016873278.1:p.Asn2736=
XM_017017790.2:c.8208T= (ATM) XP_016873279.1:p.Asn2736=
NM_001330368.2:c.641-26830A= (C11orf65) NP_001317297.1:n.641-26830A=
NM_001351110.2:c.695-609A= (C11orf65) NP_001338039.1:n.695-609A=
NM_001351834.2:c.8208T= (ATM) NP_001338763.1:p.Asn2736=
NM_000051.4:c.8208T= (ATM) MANE Select NP_000042.3:p.Asn2736=
NR_147053.3:n.2300-609A= (C11orf65)