Canonical Allele Identifier: CA671419912
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs1317848959

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108333989G>C , CM000673.2:g.108333989G>C GRCh38
NC_000011.9:g.108204716G>C , CM000673.1:g.108204716G>C GRCh37
NC_000011.8:g.107709926G>C NCBI36
NG_009830.1:g.116158G>C , LRG_135:g.116158G>C
NG_054724.1:g.140844C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8010+21G>C (ATM) ENSP00000388058.2:n.8010+21G>C
ENST00000713593.1:c.*7481+21G>C (ATM) ENSP00000518889.1:n.*7481+21G>C
ENST00000278616.9:c.8010+21G>C (ATM) ENSP00000278616.4:n.8010+21G>C
ENST00000525056.2:n.2429+21G>C (ATM)
ENST00000638786.2:n.708+21G>C (ATM)
ENST00000682286.1:n.2767+21G>C (ATM)
ENST00000682302.1:n.2428+21G>C (ATM)
ENST00000683174.1:n.9494+21G>C (ATM)
ENST00000683524.1:n.3234+21G>C (ATM)
ENST00000684152.1:n.3426+21G>C (ATM)
ENST00000684180.1:n.484+21G>C (ATM)
ENST00000684447.1:n.4503+21G>C (ATM)
ENST00000527805.6:c.*3074+21G>C (ATM) ENSP00000435747.2:n.*3074+21G>C
ENST00000675595.1:c.*3145+21G>C (ATM) ENSP00000502563.1:n.*3145+21G>C
ENST00000675843.1:c.8010+21G>C (ATM) MANE Select ENSP00000501606.1:n.8010+21G>C
ENST00000278616.8:c.8010+21G>C (ATM) ENSP00000278616.4:n.8010+21G>C
ENST00000452508.6:c.8010+21G>C (ATM) ENSP00000388058.2:n.8010+21G>C
ENST00000524755.5:c.299+1231C>G (C11orf65)
ENST00000524792.5:n.4225+21G>C (ATM)
ENST00000525056.1:n.207+21G>C (ATM)
ENST00000525729.5:c.641-24918C>G (C11orf65) ENSP00000433395.1:n.641-24918C>G
ENST00000527531.5:c.*1269+1231C>G (C11orf65) ENSP00000431706.1:n.*1269+1231C>G
ENST00000533979.5:n.222+21G>C (ATM)
ENST00000615746.4:c.*1269+1231C>G (C11orf65) ENSP00000483537.1:n.*1269+1231C>G
NM_000051.3:c.8010+21G>C , LRG_135t1:c.8010+21G>C (ATM) NP_000042.3:n.8010+21G>C
XM_005271414.3:c.*38+1231C>G (C11orf65) XP_005271471.1:n.*38+1231C>G
XM_005271415.3:c.804+1231C>G (C11orf65) XP_005271472.1:n.804+1231C>G
XM_005271561.3:c.8010+21G>C (ATM) XP_005271618.2:n.8010+21G>C
XM_005271562.3:c.8010+21G>C (ATM) XP_005271619.2:n.8010+21G>C
XM_006718843.2:c.8010+21G>C (ATM) XP_006718906.1:n.8010+21G>C
XM_006718845.1:c.3966+21G>C (ATM) XP_006718908.1:n.3966+21G>C
XM_011542840.1:c.8010+21G>C (ATM) XP_011541142.1:n.8010+21G>C
XM_011542841.1:c.8010+21G>C (ATM) XP_011541143.1:n.8010+21G>C
XM_011542842.1:c.7845+21G>C (ATM) XP_011541144.1:n.7845+21G>C
XM_011542843.1:c.8010+21G>C (ATM) XP_011541145.1:n.8010+21G>C
XM_011542844.1:c.6966+21G>C (ATM) XP_011541146.1:n.6966+21G>C
XM_011542845.1:c.6702+21G>C (ATM) XP_011541147.1:n.6702+21G>C
XM_011542847.1:c.3081+21G>C (ATM) XP_011541149.1:n.3081+21G>C
NM_001330368.1:c.641-24918C>G (C11orf65) NP_001317297.1:n.641-24918C>G
NM_001351110.1:c.*38+1231C>G (C11orf65) NP_001338039.1:n.*38+1231C>G
NM_001351834.1:c.8010+21G>C (ATM) NP_001338763.1:n.8010+21G>C
NR_147053.2:n.2374+1231C>G (C11orf65)
XM_005271414.4:c.*38+1231C>G (C11orf65) XP_005271471.1:n.*38+1231C>G
XM_005271415.4:c.804+1231C>G (C11orf65) XP_005271472.1:n.804+1231C>G
XM_005271562.5:c.8010+21G>C (ATM) XP_005271619.2:n.8010+21G>C
XM_006718843.4:c.8010+21G>C (ATM) XP_006718906.1:n.8010+21G>C
XM_006718845.2:c.3966+21G>C (ATM) XP_006718908.1:n.3966+21G>C
XM_011542840.3:c.8010+21G>C (ATM) XP_011541142.1:n.8010+21G>C
XM_011542842.3:c.7845+21G>C (ATM) XP_011541144.1:n.7845+21G>C
XM_011542843.2:c.8010+21G>C (ATM) XP_011541145.1:n.8010+21G>C
XM_011542844.3:c.6966+21G>C (ATM) XP_011541146.1:n.6966+21G>C
XM_011542845.2:c.6702+21G>C (ATM) XP_011541147.1:n.6702+21G>C
XM_017017789.2:c.8010+21G>C (ATM) XP_016873278.1:n.8010+21G>C
XM_017017790.2:c.8010+21G>C (ATM) XP_016873279.1:n.8010+21G>C
NM_001330368.2:c.641-24918C>G (C11orf65) NP_001317297.1:n.641-24918C>G
NM_001351110.2:c.*38+1231C>G (C11orf65) NP_001338039.1:n.*38+1231C>G
NM_001351834.2:c.8010+21G>C (ATM) NP_001338763.1:n.8010+21G>C
NM_000051.4:c.8010+21G>C (ATM) MANE Select NP_000042.3:n.8010+21G>C
NR_147053.3:n.2372+1231C>G (C11orf65)