Canonical Allele Identifier: CA6266318
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335906T>G , CM000673.2:g.108335906T>G GRCh38
NC_000011.9:g.108206633T>G , CM000673.1:g.108206633T>G GRCh37
NC_000011.8:g.107711843T>G NCBI36
NG_009830.1:g.118075T>G , LRG_135:g.118075T>G
NG_054724.1:g.138927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8213T>G (ATM) ENSP00000388058.2:p.Leu2738Ter
ENST00000713593.1:c.*7684T>G (ATM) ENSP00000518889.1:n.*7684T>G
ENST00000278616.9:c.8213T>G (ATM) ENSP00000278616.4:p.Leu2738Ter
ENST00000525056.2:n.2632T>G (ATM)
ENST00000638786.2:n.911T>G (ATM)
ENST00000682286.1:n.2970T>G (ATM)
ENST00000682302.1:n.2631T>G (ATM)
ENST00000683174.1:n.9697T>G (ATM)
ENST00000683524.1:n.3437T>G (ATM)
ENST00000684152.1:n.3629T>G (ATM)
ENST00000684180.1:n.687T>G (ATM)
ENST00000684447.1:n.4706T>G (ATM)
ENST00000527805.6:c.*3277T>G (ATM) ENSP00000435747.2:n.*3277T>G
ENST00000675595.1:c.*3348T>G (ATM) ENSP00000502563.1:n.*3348T>G
ENST00000675843.1:c.8213T>G (ATM) MANE Select ENSP00000501606.1:p.Leu2738Ter
ENST00000278616.8:c.8213T>G (ATM) ENSP00000278616.4:p.Leu2738Ter
ENST00000452508.6:c.8213T>G (ATM) ENSP00000388058.2:p.Leu2738Ter
ENST00000524755.5:c.227-614A>C (C11orf65)
ENST00000524792.5:n.4428T>G (ATM)
ENST00000525056.1:n.410T>G (ATM)
ENST00000525729.5:c.641-26835A>C (C11orf65) ENSP00000433395.1:n.641-26835A>C
ENST00000527531.5:c.*1197-614A>C (C11orf65) ENSP00000431706.1:n.*1197-614A>C
ENST00000533979.5:n.425T>G (ATM)
ENST00000615746.4:c.*1197-614A>C (C11orf65) ENSP00000483537.1:n.*1197-614A>C
NM_000051.3:c.8213T>G , LRG_135t1:c.8213T>G (ATM) NP_000042.3:p.Leu2738Ter
XM_005271414.3:c.788-614A>C (C11orf65) XP_005271471.1:n.788-614A>C
XM_005271415.3:c.732-614A>C (C11orf65) XP_005271472.1:n.732-614A>C
XM_005271561.3:c.8213T>G (ATM) XP_005271618.2:p.Leu2738Ter
XM_005271562.3:c.8213T>G (ATM) XP_005271619.2:p.Leu2738Ter
XM_006718843.2:c.8213T>G (ATM) XP_006718906.1:p.Leu2738Ter
XM_006718845.1:c.4169T>G (ATM) XP_006718908.1:p.Leu1390Ter
XM_011542840.1:c.8213T>G (ATM) XP_011541142.1:p.Leu2738Ter
XM_011542841.1:c.8213T>G (ATM) XP_011541143.1:p.Leu2738Ter
XM_011542842.1:c.8048T>G (ATM) XP_011541144.1:p.Leu2683Ter
XM_011542843.1:c.8213T>G (ATM) XP_011541145.1:p.Leu2738Ter
XM_011542844.1:c.7169T>G (ATM) XP_011541146.1:p.Leu2390Ter
XM_011542845.1:c.6905T>G (ATM) XP_011541147.1:p.Leu2302Ter
XM_011542847.1:c.3284T>G (ATM) XP_011541149.1:p.Leu1095Ter
NM_001330368.1:c.641-26835A>C (C11orf65) NP_001317297.1:n.641-26835A>C
NM_001351110.1:c.695-614A>C (C11orf65) NP_001338039.1:n.695-614A>C
NM_001351834.1:c.8213T>G (ATM) NP_001338763.1:p.Leu2738Ter
NR_147053.2:n.2302-614A>C (C11orf65)
XM_005271414.4:c.788-614A>C (C11orf65) XP_005271471.1:n.788-614A>C
XM_005271415.4:c.732-614A>C (C11orf65) XP_005271472.1:n.732-614A>C
XM_005271562.5:c.8213T>G (ATM) XP_005271619.2:p.Leu2738Ter
XM_006718843.4:c.8213T>G (ATM) XP_006718906.1:p.Leu2738Ter
XM_006718845.2:c.4169T>G (ATM) XP_006718908.1:p.Leu1390Ter
XM_011542840.3:c.8213T>G (ATM) XP_011541142.1:p.Leu2738Ter
XM_011542842.3:c.8048T>G (ATM) XP_011541144.1:p.Leu2683Ter
XM_011542843.2:c.8213T>G (ATM) XP_011541145.1:p.Leu2738Ter
XM_011542844.3:c.7169T>G (ATM) XP_011541146.1:p.Leu2390Ter
XM_011542845.2:c.6905T>G (ATM) XP_011541147.1:p.Leu2302Ter
XM_017017789.2:c.8213T>G (ATM) XP_016873278.1:p.Leu2738Ter
XM_017017790.2:c.8213T>G (ATM) XP_016873279.1:p.Leu2738Ter
NM_001330368.2:c.641-26835A>C (C11orf65) NP_001317297.1:n.641-26835A>C
NM_001351110.2:c.695-614A>C (C11orf65) NP_001338039.1:n.695-614A>C
NM_001351834.2:c.8213T>G (ATM) NP_001338763.1:p.Leu2738Ter
NM_000051.4:c.8213T>G (ATM) MANE Select NP_000042.3:p.Leu2738Ter
NR_147053.3:n.2300-614A>C (C11orf65)
Search 100 bp 5'
Search 100 bp 3'