Canonical Allele Identifier: CA1998802025
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2084735298

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108317117_108317118insT , CM000673.2:g.108317117_108317118insT GRCh38
NC_000011.9:g.108187844_108187845insT , CM000673.1:g.108187844_108187845insT GRCh37
NC_000011.8:g.107693054_107693055insT NCBI36
NG_009830.1:g.99286_99287insT , LRG_135:g.99286_99287insT
NG_054724.1:g.157715_157716insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6199-256_6199-255insT (ATM) ENSP00000388058.2:n.6199-256_6199-255insT
ENST00000713593.1:c.*5670-256_*5670-255insT (ATM) ENSP00000518889.1:n.*5670-256_*5670-255insT
ENST00000278616.9:c.6199-256_6199-255insT (ATM) ENSP00000278616.4:n.6199-256_6199-255insT
ENST00000525056.2:n.618-256_618-255insT (ATM)
ENST00000682286.1:n.956-256_956-255insT (ATM)
ENST00000682302.1:n.617-256_617-255insT (ATM)
ENST00000683174.1:n.7683-256_7683-255insT (ATM)
ENST00000683524.1:n.1423-256_1423-255insT (ATM)
ENST00000684152.1:n.1913-256_1913-255insT (ATM)
ENST00000527805.6:c.*1263-256_*1263-255insT (ATM) ENSP00000435747.2:n.*1263-256_*1263-255insT
ENST00000675595.1:c.*1263-256_*1263-255insT (ATM) ENSP00000502563.1:n.*1263-256_*1263-255insT
ENST00000675843.1:c.6199-256_6199-255insT (ATM) MANE Select ENSP00000501606.1:n.6199-256_6199-255insT
ENST00000278616.8:c.6199-256_6199-255insT (ATM) ENSP00000278616.4:n.6199-256_6199-255insT
ENST00000452508.6:c.6199-256_6199-255insT (ATM) ENSP00000388058.2:n.6199-256_6199-255insT
ENST00000524792.5:n.2414-256_2414-255insT (ATM)
ENST00000525729.5:c.641-8047_641-8046insA (C11orf65) ENSP00000433395.1:n.641-8047_641-8046insA
ENST00000532765.1:n.516-256_516-255insT (ATM)
ENST00000533690.5:n.1603-256_1603-255insT (ATM)
NM_000051.3:c.6199-256_6199-255insT , LRG_135t1:c.6199-256_6199-255insT (ATM) NP_000042.3:n.6199-256_6199-255insT
XM_005271561.3:c.6199-256_6199-255insT (ATM) XP_005271618.2:n.6199-256_6199-255insT
XM_005271562.3:c.6199-256_6199-255insT (ATM) XP_005271619.2:n.6199-256_6199-255insT
XM_006718843.2:c.6199-256_6199-255insT (ATM) XP_006718906.1:n.6199-256_6199-255insT
XM_006718845.1:c.2155-256_2155-255insT (ATM) XP_006718908.1:n.2155-256_2155-255insT
XM_011542840.1:c.6199-256_6199-255insT (ATM) XP_011541142.1:n.6199-256_6199-255insT
XM_011542841.1:c.6199-256_6199-255insT (ATM) XP_011541143.1:n.6199-256_6199-255insT
XM_011542842.1:c.6034-256_6034-255insT (ATM) XP_011541144.1:n.6034-256_6034-255insT
XM_011542843.1:c.6199-256_6199-255insT (ATM) XP_011541145.1:n.6199-256_6199-255insT
XM_011542844.1:c.5155-256_5155-255insT (ATM) XP_011541146.1:n.5155-256_5155-255insT
XM_011542845.1:c.4891-256_4891-255insT (ATM) XP_011541147.1:n.4891-256_4891-255insT
XM_011542847.1:c.1270-256_1270-255insT (ATM) XP_011541149.1:n.1270-256_1270-255insT
NM_001330368.1:c.641-8047_641-8046insA (C11orf65) NP_001317297.1:n.641-8047_641-8046insA
NM_001351110.1:c.*39-8047_*39-8046insA (C11orf65) NP_001338039.1:n.*39-8047_*39-8046insA
NM_001351834.1:c.6199-256_6199-255insT (ATM) NP_001338763.1:n.6199-256_6199-255insT
XM_005271562.5:c.6199-256_6199-255insT (ATM) XP_005271619.2:n.6199-256_6199-255insT
XM_006718843.4:c.6199-256_6199-255insT (ATM) XP_006718906.1:n.6199-256_6199-255insT
XM_006718845.2:c.2155-256_2155-255insT (ATM) XP_006718908.1:n.2155-256_2155-255insT
XM_011542840.3:c.6199-256_6199-255insT (ATM) XP_011541142.1:n.6199-256_6199-255insT
XM_011542842.3:c.6034-256_6034-255insT (ATM) XP_011541144.1:n.6034-256_6034-255insT
XM_011542843.2:c.6199-256_6199-255insT (ATM) XP_011541145.1:n.6199-256_6199-255insT
XM_011542844.3:c.5155-256_5155-255insT (ATM) XP_011541146.1:n.5155-256_5155-255insT
XM_011542845.2:c.4891-256_4891-255insT (ATM) XP_011541147.1:n.4891-256_4891-255insT
XM_017017789.2:c.6199-256_6199-255insT (ATM) XP_016873278.1:n.6199-256_6199-255insT
XM_017017790.2:c.6199-256_6199-255insT (ATM) XP_016873279.1:n.6199-256_6199-255insT
XM_017017791.1:c.6199-256_6199-255insT (ATM) XP_016873280.1:n.6199-256_6199-255insT
NM_001330368.2:c.641-8047_641-8046insA (C11orf65) NP_001317297.1:n.641-8047_641-8046insA
NM_001351110.2:c.*39-8047_*39-8046insA (C11orf65) NP_001338039.1:n.*39-8047_*39-8046insA
NM_001351834.2:c.6199-256_6199-255insT (ATM) NP_001338763.1:n.6199-256_6199-255insT
NM_000051.4:c.6199-256_6199-255insT (ATM) MANE Select NP_000042.3:n.6199-256_6199-255insT