Canonical Allele Identifier: CA2499220667
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136012153
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108310173_108310174insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT , CM000673.2:g.108310173_108310174insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT GRCh38
NC_000011.9:g.108180900_108180901insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT , CM000673.1:g.108180900_108180901insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT GRCh37
NC_000011.8:g.107686110_107686111insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT NCBI36
NG_009830.1:g.92342_92343insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT , LRG_135:g.92342_92343insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT
NG_054724.1:g.164659_164660insAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) ENSP00000388058.2:p.Thr1926ArgfsTer7
ENST00000713593.1:c.*5247_*5248insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) ENSP00000518889.1:n.*5247_*5248insGGTCTTCTTTAGACCTTTAGACCTTTC...
ENST00000278616.9:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) ENSP00000278616.4:p.Thr1926ArgfsTer7
ENST00000525056.2:n.195_196insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000682286.1:n.533_534insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000682302.1:n.194_195insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000683174.1:n.7260_7261insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000683524.1:n.1000_1001insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000684152.1:n.1490_1491insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000527805.6:c.*840_*841insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) ENSP00000435747.2:n.*840_*841insGGTCTTCTTTAGACCTTTAGACCTTTCTT...
ENST00000675595.1:c.*840_*841insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) ENSP00000502563.1:n.*840_*841insGGTCTTCTTTAGACCTTTAGACCTTTCTT...
ENST00000675843.1:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) MANE Select ENSP00000501606.1:p.Thr1926ArgfsTer7
ENST00000278616.8:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) ENSP00000278616.4:p.Thr1926ArgfsTer7
ENST00000452508.6:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) ENSP00000388058.2:p.Thr1926ArgfsTer7
ENST00000524792.5:n.1991_1992insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000525729.5:c.641-1103_641-1102insAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65) ENSP00000433395.1:n.641-1103_641-1102insAAGAAGGTCTAAAGAAAGGTC...
ENST00000529588.5:c.200_201insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000532765.1:n.93_94insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
ENST00000533690.5:n.1180_1181insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
NM_000051.3:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT , LRG_135t1:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) NP_000042.3:p.Thr1926ArgfsTer7
XM_005271561.3:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_005271618.2:p.Thr1926ArgfsTer7
XM_005271562.3:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_005271619.2:p.Thr1926ArgfsTer7
XM_006718843.2:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_006718906.1:p.Thr1926ArgfsTer7
XM_006718845.1:c.1732_1733insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_006718908.1:p.Thr578ArgfsTer7
XM_011542840.1:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541142.1:p.Thr1926ArgfsTer7
XM_011542841.1:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541143.1:p.Thr1926ArgfsTer7
XM_011542842.1:c.5611_5612insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541144.1:p.Thr1871ArgfsTer7
XM_011542843.1:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541145.1:p.Thr1926ArgfsTer7
XM_011542844.1:c.4732_4733insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541146.1:p.Thr1578ArgfsTer7
XM_011542845.1:c.4468_4469insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541147.1:p.Thr1490ArgfsTer7
XM_011542847.1:c.847_848insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541149.1:p.Thr283ArgfsTer7
NM_001330368.1:c.641-1103_641-1102insAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65) NP_001317297.1:n.641-1103_641-1102insAAGAAGGTCTAAAGAAAGGTCTAA...
NM_001351110.1:c.*39-1103_*39-1102insAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65) NP_001338039.1:n.*39-1103_*39-1102insAAGAAGGTCTAAAGAAAGGTCTAA...
NM_001351834.1:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) NP_001338763.1:p.Thr1926ArgfsTer7
XM_005271562.5:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_005271619.2:p.Thr1926ArgfsTer7
XM_006718843.4:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_006718906.1:p.Thr1926ArgfsTer7
XM_006718845.2:c.1732_1733insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_006718908.1:p.Thr578ArgfsTer7
XM_011542840.3:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541142.1:p.Thr1926ArgfsTer7
XM_011542842.3:c.5611_5612insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541144.1:p.Thr1871ArgfsTer7
XM_011542843.2:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541145.1:p.Thr1926ArgfsTer7
XM_011542844.3:c.4732_4733insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541146.1:p.Thr1578ArgfsTer7
XM_011542845.2:c.4468_4469insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_011541147.1:p.Thr1490ArgfsTer7
XM_017017789.2:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_016873278.1:p.Thr1926ArgfsTer7
XM_017017790.2:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_016873279.1:p.Thr1926ArgfsTer7
XM_017017791.1:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) XP_016873280.1:p.Thr1926ArgfsTer7
XR_002957150.1:n.6376_6377insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM)
NM_001330368.2:c.641-1103_641-1102insAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65) NP_001317297.1:n.641-1103_641-1102insAAGAAGGTCTAAAGAAAGGTCTAA...
NM_001351110.2:c.*39-1103_*39-1102insAAGAAGGTCTAAAGAAAGGTCTAAAGGTCTAAAGAAGACC (C11orf65) NP_001338039.1:n.*39-1103_*39-1102insAAGAAGGTCTAAAGAAAGGTCTAA...
NM_001351834.2:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) NP_001338763.1:p.Thr1926ArgfsTer7
NM_000051.4:c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT (ATM) MANE Select NP_000042.3:p.Thr1926ArgfsTer7
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