Canonical Allele Identifier: CA671421666
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs1163007771

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108317115_108317138del , CM000673.2:g.108317115_108317138del GRCh38
NC_000011.9:g.108187842_108187865del , CM000673.1:g.108187842_108187865del GRCh37
NC_000011.8:g.107693052_107693075del NCBI36
NG_009830.1:g.99284_99307del , LRG_135:g.99284_99307del
NG_054724.1:g.157695_157718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6199-258_6199-235del (ATM) ENSP00000388058.2:n.6199-258_6199-235del
ENST00000713593.1:c.*5670-258_*5670-235del (ATM) ENSP00000518889.1:n.*5670-258_*5670-235del
ENST00000278616.9:c.6199-258_6199-235del (ATM) ENSP00000278616.4:n.6199-258_6199-235del
ENST00000525056.2:n.618-258_618-235del (ATM)
ENST00000682286.1:n.956-258_956-235del (ATM)
ENST00000682302.1:n.617-258_617-235del (ATM)
ENST00000683174.1:n.7683-258_7683-235del (ATM)
ENST00000683524.1:n.1423-258_1423-235del (ATM)
ENST00000684152.1:n.1913-258_1913-235del (ATM)
ENST00000527805.6:c.*1263-258_*1263-235del (ATM) ENSP00000435747.2:n.*1263-258_*1263-235del
ENST00000675595.1:c.*1263-258_*1263-235del (ATM) ENSP00000502563.1:n.*1263-258_*1263-235del
ENST00000675843.1:c.6199-258_6199-235del (ATM) MANE Select ENSP00000501606.1:n.6199-258_6199-235del
ENST00000278616.8:c.6199-258_6199-235del (ATM) ENSP00000278616.4:n.6199-258_6199-235del
ENST00000452508.6:c.6199-258_6199-235del (ATM) ENSP00000388058.2:n.6199-258_6199-235del
ENST00000524792.5:n.2414-258_2414-235del (ATM)
ENST00000525729.5:c.641-8067_641-8044del (C11orf65) ENSP00000433395.1:n.641-8067_641-8044del
ENST00000532765.1:n.516-258_516-235del (ATM)
ENST00000533690.5:n.1603-258_1603-235del (ATM)
NM_000051.3:c.6199-258_6199-235del , LRG_135t1:c.6199-258_6199-235del (ATM) NP_000042.3:n.6199-258_6199-235del
XM_005271561.3:c.6199-258_6199-235del (ATM) XP_005271618.2:n.6199-258_6199-235del
XM_005271562.3:c.6199-258_6199-235del (ATM) XP_005271619.2:n.6199-258_6199-235del
XM_006718843.2:c.6199-258_6199-235del (ATM) XP_006718906.1:n.6199-258_6199-235del
XM_006718845.1:c.2155-258_2155-235del (ATM) XP_006718908.1:n.2155-258_2155-235del
XM_011542840.1:c.6199-258_6199-235del (ATM) XP_011541142.1:n.6199-258_6199-235del
XM_011542841.1:c.6199-258_6199-235del (ATM) XP_011541143.1:n.6199-258_6199-235del
XM_011542842.1:c.6034-258_6034-235del (ATM) XP_011541144.1:n.6034-258_6034-235del
XM_011542843.1:c.6199-258_6199-235del (ATM) XP_011541145.1:n.6199-258_6199-235del
XM_011542844.1:c.5155-258_5155-235del (ATM) XP_011541146.1:n.5155-258_5155-235del
XM_011542845.1:c.4891-258_4891-235del (ATM) XP_011541147.1:n.4891-258_4891-235del
XM_011542847.1:c.1270-258_1270-235del (ATM) XP_011541149.1:n.1270-258_1270-235del
NM_001330368.1:c.641-8067_641-8044del (C11orf65) NP_001317297.1:n.641-8067_641-8044del
NM_001351110.1:c.*39-8067_*39-8044del (C11orf65) NP_001338039.1:n.*39-8067_*39-8044del
NM_001351834.1:c.6199-258_6199-235del (ATM) NP_001338763.1:n.6199-258_6199-235del
XM_005271562.5:c.6199-258_6199-235del (ATM) XP_005271619.2:n.6199-258_6199-235del
XM_006718843.4:c.6199-258_6199-235del (ATM) XP_006718906.1:n.6199-258_6199-235del
XM_006718845.2:c.2155-258_2155-235del (ATM) XP_006718908.1:n.2155-258_2155-235del
XM_011542840.3:c.6199-258_6199-235del (ATM) XP_011541142.1:n.6199-258_6199-235del
XM_011542842.3:c.6034-258_6034-235del (ATM) XP_011541144.1:n.6034-258_6034-235del
XM_011542843.2:c.6199-258_6199-235del (ATM) XP_011541145.1:n.6199-258_6199-235del
XM_011542844.3:c.5155-258_5155-235del (ATM) XP_011541146.1:n.5155-258_5155-235del
XM_011542845.2:c.4891-258_4891-235del (ATM) XP_011541147.1:n.4891-258_4891-235del
XM_017017789.2:c.6199-258_6199-235del (ATM) XP_016873278.1:n.6199-258_6199-235del
XM_017017790.2:c.6199-258_6199-235del (ATM) XP_016873279.1:n.6199-258_6199-235del
XM_017017791.1:c.6199-258_6199-235del (ATM) XP_016873280.1:n.6199-258_6199-235del
NM_001330368.2:c.641-8067_641-8044del (C11orf65) NP_001317297.1:n.641-8067_641-8044del
NM_001351110.2:c.*39-8067_*39-8044del (C11orf65) NP_001338039.1:n.*39-8067_*39-8044del
NM_001351834.2:c.6199-258_6199-235del (ATM) NP_001338763.1:n.6199-258_6199-235del
NM_000051.4:c.6199-258_6199-235del (ATM) MANE Select NP_000042.3:n.6199-258_6199-235del