Canonical Allele Identifier: CA168731
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 142570
ClinVar RCV Id: RCV000131770
dbSNP Id: rs1555116468

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108320009_108320010insCT , CM000673.2:g.108320009_108320010insCT GRCh38
NC_000011.9:g.108190736_108190737insCT , CM000673.1:g.108190736_108190737insCT GRCh37
NC_000011.8:g.107695946_107695947insCT NCBI36
NG_009830.1:g.102178_102179insCT , LRG_135:g.102178_102179insCT
NG_054724.1:g.154823_154824insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.6403_6404insCT (ATM) ENSP00000388058.2:p.Leu2135ProfsTer2
ENST00000713593.1:c.*5874_*5875insCT (ATM) ENSP00000518889.1:n.*5874_*5875insCT
ENST00000278616.9:c.6403_6404insCT (ATM) ENSP00000278616.4:p.Leu2135ProfsTer2
ENST00000525056.2:n.822_823insCT (ATM)
ENST00000682286.1:n.1160_1161insCT (ATM)
ENST00000682302.1:n.821_822insCT (ATM)
ENST00000683174.1:n.7887_7888insCT (ATM)
ENST00000683524.1:n.1627_1628insCT (ATM)
ENST00000684152.1:n.2117_2118insCT (ATM)
ENST00000527805.6:c.*1467_*1468insCT (ATM) ENSP00000435747.2:n.*1467_*1468insCT
ENST00000675595.1:c.*1467_*1468insCT (ATM) ENSP00000502563.1:n.*1467_*1468insCT
ENST00000675843.1:c.6403_6404insCT (ATM) MANE Select ENSP00000501606.1:p.Leu2135ProfsTer2
ENST00000278616.8:c.6403_6404insCT (ATM) ENSP00000278616.4:p.Leu2135ProfsTer2
ENST00000452508.6:c.6403_6404insCT (ATM) ENSP00000388058.2:p.Leu2135ProfsTer2
ENST00000524792.5:n.2618_2619insCT (ATM)
ENST00000525729.5:c.641-10939_641-10938insAG (C11orf65) ENSP00000433395.1:n.641-10939_641-10938in...
ENST00000533690.5:n.1807_1808insCT (ATM)
NM_000051.3:c.6403_6404insCT , LRG_135t1:c.6403_6404insCT (ATM) NP_000042.3:p.Leu2135ProfsTer2
XM_005271561.3:c.6403_6404insCT (ATM) XP_005271618.2:p.Leu2135ProfsTer2
XM_005271562.3:c.6403_6404insCT (ATM) XP_005271619.2:p.Leu2135ProfsTer2
XM_006718843.2:c.6403_6404insCT (ATM) XP_006718906.1:p.Leu2135ProfsTer2
XM_006718845.1:c.2359_2360insCT (ATM) XP_006718908.1:p.Leu787ProfsTer2
XM_011542840.1:c.6403_6404insCT (ATM) XP_011541142.1:p.Leu2135ProfsTer2
XM_011542841.1:c.6403_6404insCT (ATM) XP_011541143.1:p.Leu2135ProfsTer2
XM_011542842.1:c.6238_6239insCT (ATM) XP_011541144.1:p.Leu2080ProfsTer2
XM_011542843.1:c.6403_6404insCT (ATM) XP_011541145.1:p.Leu2135ProfsTer2
XM_011542844.1:c.5359_5360insCT (ATM) XP_011541146.1:p.Leu1787ProfsTer2
XM_011542845.1:c.5095_5096insCT (ATM) XP_011541147.1:p.Leu1699ProfsTer2
XM_011542847.1:c.1474_1475insCT (ATM) XP_011541149.1:p.Leu492ProfsTer2
NM_001330368.1:c.641-10939_641-10938insAG (C11orf65) NP_001317297.1:n.641-10939_641-10938insAG...
NM_001351110.1:c.*39-10939_*39-10938insAG (C11orf65) NP_001338039.1:n.*39-10939_*39-10938insAG...
NM_001351834.1:c.6403_6404insCT (ATM) NP_001338763.1:p.Leu2135ProfsTer2
XM_005271562.5:c.6403_6404insCT (ATM) XP_005271619.2:p.Leu2135ProfsTer2
XM_006718843.4:c.6403_6404insCT (ATM) XP_006718906.1:p.Leu2135ProfsTer2
XM_006718845.2:c.2359_2360insCT (ATM) XP_006718908.1:p.Leu787ProfsTer2
XM_011542840.3:c.6403_6404insCT (ATM) XP_011541142.1:p.Leu2135ProfsTer2
XM_011542842.3:c.6238_6239insCT (ATM) XP_011541144.1:p.Leu2080ProfsTer2
XM_011542843.2:c.6403_6404insCT (ATM) XP_011541145.1:p.Leu2135ProfsTer2
XM_011542844.3:c.5359_5360insCT (ATM) XP_011541146.1:p.Leu1787ProfsTer2
XM_011542845.2:c.5095_5096insCT (ATM) XP_011541147.1:p.Leu1699ProfsTer2
XM_017017789.2:c.6403_6404insCT (ATM) XP_016873278.1:p.Leu2135ProfsTer2
XM_017017790.2:c.6403_6404insCT (ATM) XP_016873279.1:p.Leu2135ProfsTer2
XM_017017791.1:c.6403_6404insCT (ATM) XP_016873280.1:p.Leu2135ProfsTer2
NM_001330368.2:c.641-10939_641-10938insAG (C11orf65) NP_001317297.1:n.641-10939_641-10938insAG...
NM_001351110.2:c.*39-10939_*39-10938insAG (C11orf65) NP_001338039.1:n.*39-10939_*39-10938insAG...
NM_001351834.2:c.6403_6404insCT (ATM) NP_001338763.1:p.Leu2135ProfsTer2
NM_000051.4:c.6403_6404insCT (ATM) MANE Select NP_000042.3:p.Leu2135ProfsTer2