Canonical Allele Identifier: CA6265948
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 490659
dbSNP Id: rs763296454

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108321286C>T , CM000673.2:g.108321286C>T GRCh38
NC_000011.9:g.108192013C>T , CM000673.1:g.108192013C>T GRCh37
NC_000011.8:g.107697223C>T NCBI36
NG_009830.1:g.103455C>T , LRG_135:g.103455C>T
NG_054724.1:g.153547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6453-15C>T (ATM) ENSP00000388058.2:n.6453-15C>T
ENST00000713593.1:c.*5924-15C>T (ATM) ENSP00000518889.1:n.*5924-15C>T
ENST00000278616.9:c.6453-15C>T (ATM) ENSP00000278616.4:n.6453-15C>T
ENST00000525056.2:n.872-15C>T (ATM)
ENST00000682286.1:n.1210-15C>T (ATM)
ENST00000682302.1:n.871-15C>T (ATM)
ENST00000683174.1:n.7937-15C>T (ATM)
ENST00000683524.1:n.1677-15C>T (ATM)
ENST00000684152.1:n.2167-15C>T (ATM)
ENST00000527805.6:c.*1517-15C>T (ATM) ENSP00000435747.2:n.*1517-15C>T
ENST00000675595.1:c.*1588-15C>T (ATM) ENSP00000502563.1:n.*1588-15C>T
ENST00000675843.1:c.6453-15C>T (ATM) MANE Select ENSP00000501606.1:n.6453-15C>T
ENST00000278616.8:c.6453-15C>T (ATM) ENSP00000278616.4:n.6453-15C>T
ENST00000452508.6:c.6453-15C>T (ATM) ENSP00000388058.2:n.6453-15C>T
ENST00000524792.5:n.2668-15C>T (ATM)
ENST00000525729.5:c.641-12215G>A (C11orf65) ENSP00000433395.1:n.641-12215G>A
ENST00000533690.5:n.1857-15C>T (ATM)
NM_000051.3:c.6453-15C>T , LRG_135t1:c.6453-15C>T (ATM) NP_000042.3:n.6453-15C>T
XM_005271561.3:c.6453-15C>T (ATM) XP_005271618.2:n.6453-15C>T
XM_005271562.3:c.6453-15C>T (ATM) XP_005271619.2:n.6453-15C>T
XM_006718843.2:c.6453-15C>T (ATM) XP_006718906.1:n.6453-15C>T
XM_006718845.1:c.2409-15C>T (ATM) XP_006718908.1:n.2409-15C>T
XM_011542840.1:c.6453-15C>T (ATM) XP_011541142.1:n.6453-15C>T
XM_011542841.1:c.6453-15C>T (ATM) XP_011541143.1:n.6453-15C>T
XM_011542842.1:c.6288-15C>T (ATM) XP_011541144.1:n.6288-15C>T
XM_011542843.1:c.6453-15C>T (ATM) XP_011541145.1:n.6453-15C>T
XM_011542844.1:c.5409-15C>T (ATM) XP_011541146.1:n.5409-15C>T
XM_011542845.1:c.5145-15C>T (ATM) XP_011541147.1:n.5145-15C>T
XM_011542847.1:c.1524-15C>T (ATM) XP_011541149.1:n.1524-15C>T
NM_001330368.1:c.641-12215G>A (C11orf65) NP_001317297.1:n.641-12215G>A
NM_001351110.1:c.*39-12215G>A (C11orf65) NP_001338039.1:n.*39-12215G>A
NM_001351834.1:c.6453-15C>T (ATM) NP_001338763.1:n.6453-15C>T
XM_005271562.5:c.6453-15C>T (ATM) XP_005271619.2:n.6453-15C>T
XM_006718843.4:c.6453-15C>T (ATM) XP_006718906.1:n.6453-15C>T
XM_006718845.2:c.2409-15C>T (ATM) XP_006718908.1:n.2409-15C>T
XM_011542840.3:c.6453-15C>T (ATM) XP_011541142.1:n.6453-15C>T
XM_011542842.3:c.6288-15C>T (ATM) XP_011541144.1:n.6288-15C>T
XM_011542843.2:c.6453-15C>T (ATM) XP_011541145.1:n.6453-15C>T
XM_011542844.3:c.5409-15C>T (ATM) XP_011541146.1:n.5409-15C>T
XM_011542845.2:c.5145-15C>T (ATM) XP_011541147.1:n.5145-15C>T
XM_017017789.2:c.6453-15C>T (ATM) XP_016873278.1:n.6453-15C>T
XM_017017790.2:c.6453-15C>T (ATM) XP_016873279.1:n.6453-15C>T
XM_017017791.1:c.6463C>T (ATM) XP_016873280.1:p.Leu2155Phe
NM_001330368.2:c.641-12215G>A (C11orf65) NP_001317297.1:n.641-12215G>A
NM_001351110.2:c.*39-12215G>A (C11orf65) NP_001338039.1:n.*39-12215G>A
NM_001351834.2:c.6453-15C>T (ATM) NP_001338763.1:n.6453-15C>T
NM_000051.4:c.6453-15C>T (ATM) MANE Select NP_000042.3:n.6453-15C>T