Canonical Allele Identifier: CA298299
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 181975
dbSNP Id: rs202206540

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108316069G>A , CM000673.2:g.108316069G>A GRCh38
NC_000011.9:g.108186796G>A , CM000673.1:g.108186796G>A GRCh37
NC_000011.8:g.107692006G>A NCBI36
NG_009830.1:g.98238G>A , LRG_135:g.98238G>A
NG_054724.1:g.158764C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6154G>A (ATM) ENSP00000388058.2:p.Glu2052Lys
ENST00000713593.1:c.*5625G>A (ATM) ENSP00000518889.1:n.*5625G>A
ENST00000278616.9:c.6154G>A (ATM) ENSP00000278616.4:p.Glu2052Lys
ENST00000525056.2:n.573G>A (ATM)
ENST00000682286.1:n.911G>A (ATM)
ENST00000682302.1:n.572G>A (ATM)
ENST00000683174.1:n.7638G>A (ATM)
ENST00000683524.1:n.1378G>A (ATM)
ENST00000684152.1:n.1868G>A (ATM)
ENST00000527805.6:c.*1218G>A (ATM) ENSP00000435747.2:n.*1218G>A
ENST00000675595.1:c.*1218G>A (ATM) ENSP00000502563.1:n.*1218G>A
ENST00000675843.1:c.6154G>A (ATM) MANE Select ENSP00000501606.1:p.Glu2052Lys
ENST00000278616.8:c.6154G>A (ATM) ENSP00000278616.4:p.Glu2052Lys
ENST00000452508.6:c.6154G>A (ATM) ENSP00000388058.2:p.Glu2052Lys
ENST00000524792.5:n.2369G>A (ATM)
ENST00000525729.5:c.641-6998C>T (C11orf65) ENSP00000433395.1:n.641-6998C>T
ENST00000532765.1:n.471G>A (ATM)
ENST00000533690.5:n.1558G>A (ATM)
NM_000051.3:c.6154G>A , LRG_135t1:c.6154G>A (ATM) NP_000042.3:p.Glu2052Lys
XM_005271561.3:c.6154G>A (ATM) XP_005271618.2:p.Glu2052Lys
XM_005271562.3:c.6154G>A (ATM) XP_005271619.2:p.Glu2052Lys
XM_006718843.2:c.6154G>A (ATM) XP_006718906.1:p.Glu2052Lys
XM_006718845.1:c.2110G>A (ATM) XP_006718908.1:p.Glu704Lys
XM_011542840.1:c.6154G>A (ATM) XP_011541142.1:p.Glu2052Lys
XM_011542841.1:c.6154G>A (ATM) XP_011541143.1:p.Glu2052Lys
XM_011542842.1:c.5989G>A (ATM) XP_011541144.1:p.Glu1997Lys
XM_011542843.1:c.6154G>A (ATM) XP_011541145.1:p.Glu2052Lys
XM_011542844.1:c.5110G>A (ATM) XP_011541146.1:p.Glu1704Lys
XM_011542845.1:c.4846G>A (ATM) XP_011541147.1:p.Glu1616Lys
XM_011542847.1:c.1225G>A (ATM) XP_011541149.1:p.Glu409Lys
NM_001330368.1:c.641-6998C>T (C11orf65) NP_001317297.1:n.641-6998C>T
NM_001351110.1:c.*39-6998C>T (C11orf65) NP_001338039.1:n.*39-6998C>T
NM_001351834.1:c.6154G>A (ATM) NP_001338763.1:p.Glu2052Lys
XM_005271562.5:c.6154G>A (ATM) XP_005271619.2:p.Glu2052Lys
XM_006718843.4:c.6154G>A (ATM) XP_006718906.1:p.Glu2052Lys
XM_006718845.2:c.2110G>A (ATM) XP_006718908.1:p.Glu704Lys
XM_011542840.3:c.6154G>A (ATM) XP_011541142.1:p.Glu2052Lys
XM_011542842.3:c.5989G>A (ATM) XP_011541144.1:p.Glu1997Lys
XM_011542843.2:c.6154G>A (ATM) XP_011541145.1:p.Glu2052Lys
XM_011542844.3:c.5110G>A (ATM) XP_011541146.1:p.Glu1704Lys
XM_011542845.2:c.4846G>A (ATM) XP_011541147.1:p.Glu1616Lys
XM_017017789.2:c.6154G>A (ATM) XP_016873278.1:p.Glu2052Lys
XM_017017790.2:c.6154G>A (ATM) XP_016873279.1:p.Glu2052Lys
XM_017017791.1:c.6154G>A (ATM) XP_016873280.1:p.Glu2052Lys
NM_001330368.2:c.641-6998C>T (C11orf65) NP_001317297.1:n.641-6998C>T
NM_001351110.2:c.*39-6998C>T (C11orf65) NP_001338039.1:n.*39-6998C>T
NM_001351834.2:c.6154G>A (ATM) NP_001338763.1:p.Glu2052Lys
NM_000051.4:c.6154G>A (ATM) MANE Select NP_000042.3:p.Glu2052Lys