Canonical Allele Identifier: CA2615860003
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108316217_108316218insTTCT , CM000673.2:g.108316217_108316218insTTCT GRCh38
NC_000011.9:g.108186944_108186945insTTCT , CM000673.1:g.108186944_108186945insTTCT GRCh37
NC_000011.8:g.107692154_107692155insTTCT NCBI36
NG_009830.1:g.98386_98387insTTCT , LRG_135:g.98386_98387insTTCT
NG_054724.1:g.158615_158616insAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6198+104_6198+105insTTCT (ATM) ENSP00000388058.2:n.6198+104_6198+105insTTCT
ENST00000713593.1:c.*5669+104_*5669+105insTTCT (ATM) ENSP00000518889.1:n.*5669+104_*5669+105insTTCT
ENST00000278616.9:c.6198+104_6198+105insTTCT (ATM) ENSP00000278616.4:n.6198+104_6198+105insTTCT
ENST00000525056.2:n.617+104_617+105insTTCT (ATM)
ENST00000682286.1:n.955+104_955+105insTTCT (ATM)
ENST00000682302.1:n.616+104_616+105insTTCT (ATM)
ENST00000683174.1:n.7682+104_7682+105insTTCT (ATM)
ENST00000683524.1:n.1422+104_1422+105insTTCT (ATM)
ENST00000684152.1:n.1912+104_1912+105insTTCT (ATM)
ENST00000527805.6:c.*1262+104_*1262+105insTTCT (ATM) ENSP00000435747.2:n.*1262+104_*1262+105insTTCT
ENST00000675595.1:c.*1262+104_*1262+105insTTCT (ATM) ENSP00000502563.1:n.*1262+104_*1262+105insTTCT
ENST00000675843.1:c.6198+104_6198+105insTTCT (ATM) MANE Select ENSP00000501606.1:n.6198+104_6198+105insTTCT
ENST00000278616.8:c.6198+104_6198+105insTTCT (ATM) ENSP00000278616.4:n.6198+104_6198+105insTTCT
ENST00000452508.6:c.6198+104_6198+105insTTCT (ATM) ENSP00000388058.2:n.6198+104_6198+105insTTCT
ENST00000524792.5:n.2413+104_2413+105insTTCT (ATM)
ENST00000525729.5:c.641-7147_641-7146insAGAA (C11orf65) ENSP00000433395.1:n.641-7147_641-7146insAGAA
ENST00000532765.1:n.515+104_515+105insTTCT (ATM)
ENST00000533690.5:n.1602+104_1602+105insTTCT (ATM)
NM_000051.3:c.6198+104_6198+105insTTCT , LRG_135t1:c.6198+104_6198+105insTTCT (ATM) NP_000042.3:n.6198+104_6198+105insTTCT
XM_005271561.3:c.6198+104_6198+105insTTCT (ATM) XP_005271618.2:n.6198+104_6198+105insTTCT
XM_005271562.3:c.6198+104_6198+105insTTCT (ATM) XP_005271619.2:n.6198+104_6198+105insTTCT
XM_006718843.2:c.6198+104_6198+105insTTCT (ATM) XP_006718906.1:n.6198+104_6198+105insTTCT
XM_006718845.1:c.2154+104_2154+105insTTCT (ATM) XP_006718908.1:n.2154+104_2154+105insTTCT
XM_011542840.1:c.6198+104_6198+105insTTCT (ATM) XP_011541142.1:n.6198+104_6198+105insTTCT
XM_011542841.1:c.6198+104_6198+105insTTCT (ATM) XP_011541143.1:n.6198+104_6198+105insTTCT
XM_011542842.1:c.6033+104_6033+105insTTCT (ATM) XP_011541144.1:n.6033+104_6033+105insTTCT
XM_011542843.1:c.6198+104_6198+105insTTCT (ATM) XP_011541145.1:n.6198+104_6198+105insTTCT
XM_011542844.1:c.5154+104_5154+105insTTCT (ATM) XP_011541146.1:n.5154+104_5154+105insTTCT
XM_011542845.1:c.4890+104_4890+105insTTCT (ATM) XP_011541147.1:n.4890+104_4890+105insTTCT
XM_011542847.1:c.1269+104_1269+105insTTCT (ATM) XP_011541149.1:n.1269+104_1269+105insTTCT
NM_001330368.1:c.641-7147_641-7146insAGAA (C11orf65) NP_001317297.1:n.641-7147_641-7146insAGAA
NM_001351110.1:c.*39-7147_*39-7146insAGAA (C11orf65) NP_001338039.1:n.*39-7147_*39-7146insAGAA
NM_001351834.1:c.6198+104_6198+105insTTCT (ATM) NP_001338763.1:n.6198+104_6198+105insTTCT
XM_005271562.5:c.6198+104_6198+105insTTCT (ATM) XP_005271619.2:n.6198+104_6198+105insTTCT
XM_006718843.4:c.6198+104_6198+105insTTCT (ATM) XP_006718906.1:n.6198+104_6198+105insTTCT
XM_006718845.2:c.2154+104_2154+105insTTCT (ATM) XP_006718908.1:n.2154+104_2154+105insTTCT
XM_011542840.3:c.6198+104_6198+105insTTCT (ATM) XP_011541142.1:n.6198+104_6198+105insTTCT
XM_011542842.3:c.6033+104_6033+105insTTCT (ATM) XP_011541144.1:n.6033+104_6033+105insTTCT
XM_011542843.2:c.6198+104_6198+105insTTCT (ATM) XP_011541145.1:n.6198+104_6198+105insTTCT
XM_011542844.3:c.5154+104_5154+105insTTCT (ATM) XP_011541146.1:n.5154+104_5154+105insTTCT
XM_011542845.2:c.4890+104_4890+105insTTCT (ATM) XP_011541147.1:n.4890+104_4890+105insTTCT
XM_017017789.2:c.6198+104_6198+105insTTCT (ATM) XP_016873278.1:n.6198+104_6198+105insTTCT
XM_017017790.2:c.6198+104_6198+105insTTCT (ATM) XP_016873279.1:n.6198+104_6198+105insTTCT
XM_017017791.1:c.6198+104_6198+105insTTCT (ATM) XP_016873280.1:n.6198+104_6198+105insTTCT
NM_001330368.2:c.641-7147_641-7146insAGAA (C11orf65) NP_001317297.1:n.641-7147_641-7146insAGAA
NM_001351110.2:c.*39-7147_*39-7146insAGAA (C11orf65) NP_001338039.1:n.*39-7147_*39-7146insAGAA
NM_001351834.2:c.6198+104_6198+105insTTCT (ATM) NP_001338763.1:n.6198+104_6198+105insTTCT
NM_000051.4:c.6198+104_6198+105insTTCT (ATM) MANE Select NP_000042.3:n.6198+104_6198+105insTTCT