Canonical Allele Identifier: CA2725190742
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136007197

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108310090T>G , CM000673.2:g.108310090T>G GRCh38
NC_000011.9:g.108180817T>G , CM000673.1:g.108180817T>G GRCh37
NC_000011.8:g.107686027T>G NCBI36
NG_009830.1:g.92259T>G , LRG_135:g.92259T>G
NG_054724.1:g.164743A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5763-70T>G (ATM) ENSP00000388058.2:n.5763-70T>G
ENST00000713593.1:c.*5234-70T>G (ATM) ENSP00000518889.1:n.*5234-70T>G
ENST00000278616.9:c.5763-70T>G (ATM) ENSP00000278616.4:n.5763-70T>G
ENST00000525056.2:n.182-70T>G (ATM)
ENST00000682286.1:n.520-70T>G (ATM)
ENST00000682302.1:n.181-70T>G (ATM)
ENST00000683174.1:n.7247-70T>G (ATM)
ENST00000683524.1:n.987-70T>G (ATM)
ENST00000684152.1:n.1477-70T>G (ATM)
ENST00000527805.6:c.*827-70T>G (ATM) ENSP00000435747.2:n.*827-70T>G
ENST00000675595.1:c.*827-70T>G (ATM) ENSP00000502563.1:n.*827-70T>G
ENST00000675843.1:c.5763-70T>G (ATM) MANE Select ENSP00000501606.1:n.5763-70T>G
ENST00000278616.8:c.5763-70T>G (ATM) ENSP00000278616.4:n.5763-70T>G
ENST00000452508.6:c.5763-70T>G (ATM) ENSP00000388058.2:n.5763-70T>G
ENST00000524792.5:n.1978-70T>G (ATM)
ENST00000525729.5:c.641-1019A>C (C11orf65) ENSP00000433395.1:n.641-1019A>C
ENST00000529588.5:c.187-70T>G (ATM)
ENST00000532765.1:n.80-70T>G (ATM)
ENST00000533690.5:n.1167-70T>G (ATM)
NM_000051.3:c.5763-70T>G , LRG_135t1:c.5763-70T>G (ATM) NP_000042.3:n.5763-70T>G
XM_005271561.3:c.5763-70T>G (ATM) XP_005271618.2:n.5763-70T>G
XM_005271562.3:c.5763-70T>G (ATM) XP_005271619.2:n.5763-70T>G
XM_006718843.2:c.5763-70T>G (ATM) XP_006718906.1:n.5763-70T>G
XM_006718845.1:c.1719-70T>G (ATM) XP_006718908.1:n.1719-70T>G
XM_011542840.1:c.5763-70T>G (ATM) XP_011541142.1:n.5763-70T>G
XM_011542841.1:c.5763-70T>G (ATM) XP_011541143.1:n.5763-70T>G
XM_011542842.1:c.5598-70T>G (ATM) XP_011541144.1:n.5598-70T>G
XM_011542843.1:c.5763-70T>G (ATM) XP_011541145.1:n.5763-70T>G
XM_011542844.1:c.4719-70T>G (ATM) XP_011541146.1:n.4719-70T>G
XM_011542845.1:c.4455-70T>G (ATM) XP_011541147.1:n.4455-70T>G
XM_011542847.1:c.834-70T>G (ATM) XP_011541149.1:n.834-70T>G
NM_001330368.1:c.641-1019A>C (C11orf65) NP_001317297.1:n.641-1019A>C
NM_001351110.1:c.*39-1019A>C (C11orf65) NP_001338039.1:n.*39-1019A>C
NM_001351834.1:c.5763-70T>G (ATM) NP_001338763.1:n.5763-70T>G
XM_005271562.5:c.5763-70T>G (ATM) XP_005271619.2:n.5763-70T>G
XM_006718843.4:c.5763-70T>G (ATM) XP_006718906.1:n.5763-70T>G
XM_006718845.2:c.1719-70T>G (ATM) XP_006718908.1:n.1719-70T>G
XM_011542840.3:c.5763-70T>G (ATM) XP_011541142.1:n.5763-70T>G
XM_011542842.3:c.5598-70T>G (ATM) XP_011541144.1:n.5598-70T>G
XM_011542843.2:c.5763-70T>G (ATM) XP_011541145.1:n.5763-70T>G
XM_011542844.3:c.4719-70T>G (ATM) XP_011541146.1:n.4719-70T>G
XM_011542845.2:c.4455-70T>G (ATM) XP_011541147.1:n.4455-70T>G
XM_017017789.2:c.5763-70T>G (ATM) XP_016873278.1:n.5763-70T>G
XM_017017790.2:c.5763-70T>G (ATM) XP_016873279.1:n.5763-70T>G
XM_017017791.1:c.5763-70T>G (ATM) XP_016873280.1:n.5763-70T>G
XR_002957150.1:n.6363-70T>G (ATM)
NM_001330368.2:c.641-1019A>C (C11orf65) NP_001317297.1:n.641-1019A>C
NM_001351110.2:c.*39-1019A>C (C11orf65) NP_001338039.1:n.*39-1019A>C
NM_001351834.2:c.5763-70T>G (ATM) NP_001338763.1:n.5763-70T>G
NM_000051.4:c.5763-70T>G (ATM) MANE Select NP_000042.3:n.5763-70T>G