Canonical Allele Identifier: CA1998801989
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs1801263213

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108317101_108317102insA , CM000673.2:g.108317101_108317102insA GRCh38
NC_000011.9:g.108187828_108187829insA , CM000673.1:g.108187828_108187829insA GRCh37
NC_000011.8:g.107693038_107693039insA NCBI36
NG_009830.1:g.99270_99271insA , LRG_135:g.99270_99271insA
NG_054724.1:g.157731_157732insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6199-272_6199-271insA (ATM) ENSP00000388058.2:n.6199-272_6199-271insA
ENST00000713593.1:c.*5670-272_*5670-271insA (ATM) ENSP00000518889.1:n.*5670-272_*5670-271insA
ENST00000278616.9:c.6199-272_6199-271insA (ATM) ENSP00000278616.4:n.6199-272_6199-271insA
ENST00000525056.2:n.618-272_618-271insA (ATM)
ENST00000682286.1:n.956-272_956-271insA (ATM)
ENST00000682302.1:n.617-272_617-271insA (ATM)
ENST00000683174.1:n.7683-272_7683-271insA (ATM)
ENST00000683524.1:n.1423-272_1423-271insA (ATM)
ENST00000684152.1:n.1913-272_1913-271insA (ATM)
ENST00000527805.6:c.*1263-272_*1263-271insA (ATM) ENSP00000435747.2:n.*1263-272_*1263-271insA
ENST00000675595.1:c.*1263-272_*1263-271insA (ATM) ENSP00000502563.1:n.*1263-272_*1263-271insA
ENST00000675843.1:c.6199-272_6199-271insA (ATM) MANE Select ENSP00000501606.1:n.6199-272_6199-271insA
ENST00000278616.8:c.6199-272_6199-271insA (ATM) ENSP00000278616.4:n.6199-272_6199-271insA
ENST00000452508.6:c.6199-272_6199-271insA (ATM) ENSP00000388058.2:n.6199-272_6199-271insA
ENST00000524792.5:n.2414-272_2414-271insA (ATM)
ENST00000525729.5:c.641-8031_641-8030insT (C11orf65) ENSP00000433395.1:n.641-8031_641-8030insT
ENST00000532765.1:n.516-272_516-271insA (ATM)
ENST00000533690.5:n.1603-272_1603-271insA (ATM)
NM_000051.3:c.6199-272_6199-271insA , LRG_135t1:c.6199-272_6199-271insA (ATM) NP_000042.3:n.6199-272_6199-271insA
XM_005271561.3:c.6199-272_6199-271insA (ATM) XP_005271618.2:n.6199-272_6199-271insA
XM_005271562.3:c.6199-272_6199-271insA (ATM) XP_005271619.2:n.6199-272_6199-271insA
XM_006718843.2:c.6199-272_6199-271insA (ATM) XP_006718906.1:n.6199-272_6199-271insA
XM_006718845.1:c.2155-272_2155-271insA (ATM) XP_006718908.1:n.2155-272_2155-271insA
XM_011542840.1:c.6199-272_6199-271insA (ATM) XP_011541142.1:n.6199-272_6199-271insA
XM_011542841.1:c.6199-272_6199-271insA (ATM) XP_011541143.1:n.6199-272_6199-271insA
XM_011542842.1:c.6034-272_6034-271insA (ATM) XP_011541144.1:n.6034-272_6034-271insA
XM_011542843.1:c.6199-272_6199-271insA (ATM) XP_011541145.1:n.6199-272_6199-271insA
XM_011542844.1:c.5155-272_5155-271insA (ATM) XP_011541146.1:n.5155-272_5155-271insA
XM_011542845.1:c.4891-272_4891-271insA (ATM) XP_011541147.1:n.4891-272_4891-271insA
XM_011542847.1:c.1270-272_1270-271insA (ATM) XP_011541149.1:n.1270-272_1270-271insA
NM_001330368.1:c.641-8031_641-8030insT (C11orf65) NP_001317297.1:n.641-8031_641-8030insT
NM_001351110.1:c.*39-8031_*39-8030insT (C11orf65) NP_001338039.1:n.*39-8031_*39-8030insT
NM_001351834.1:c.6199-272_6199-271insA (ATM) NP_001338763.1:n.6199-272_6199-271insA
XM_005271562.5:c.6199-272_6199-271insA (ATM) XP_005271619.2:n.6199-272_6199-271insA
XM_006718843.4:c.6199-272_6199-271insA (ATM) XP_006718906.1:n.6199-272_6199-271insA
XM_006718845.2:c.2155-272_2155-271insA (ATM) XP_006718908.1:n.2155-272_2155-271insA
XM_011542840.3:c.6199-272_6199-271insA (ATM) XP_011541142.1:n.6199-272_6199-271insA
XM_011542842.3:c.6034-272_6034-271insA (ATM) XP_011541144.1:n.6034-272_6034-271insA
XM_011542843.2:c.6199-272_6199-271insA (ATM) XP_011541145.1:n.6199-272_6199-271insA
XM_011542844.3:c.5155-272_5155-271insA (ATM) XP_011541146.1:n.5155-272_5155-271insA
XM_011542845.2:c.4891-272_4891-271insA (ATM) XP_011541147.1:n.4891-272_4891-271insA
XM_017017789.2:c.6199-272_6199-271insA (ATM) XP_016873278.1:n.6199-272_6199-271insA
XM_017017790.2:c.6199-272_6199-271insA (ATM) XP_016873279.1:n.6199-272_6199-271insA
XM_017017791.1:c.6199-272_6199-271insA (ATM) XP_016873280.1:n.6199-272_6199-271insA
NM_001330368.2:c.641-8031_641-8030insT (C11orf65) NP_001317297.1:n.641-8031_641-8030insT
NM_001351110.2:c.*39-8031_*39-8030insT (C11orf65) NP_001338039.1:n.*39-8031_*39-8030insT
NM_001351834.2:c.6199-272_6199-271insA (ATM) NP_001338763.1:n.6199-272_6199-271insA
NM_000051.4:c.6199-272_6199-271insA (ATM) MANE Select NP_000042.3:n.6199-272_6199-271insA