Canonical Allele Identifier: CA1998820808
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2089580441
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354081_108354082insTA , CM000673.2:g.108354081_108354082insTA GRCh38
NC_000011.9:g.108224808_108224809insTA , CM000673.1:g.108224808_108224809insTA GRCh37
NC_000011.8:g.107730018_107730019insTA NCBI36
NG_009830.1:g.136250_136251insTA , LRG_135:g.136250_136251insTA
NG_054724.1:g.120752_120753insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+201_8786+202insTA (ATM) ENSP00000388058.2:n.8786+201_8786+202insTA
ENST00000713593.1:c.*8257+201_*8257+202insTA (ATM) ENSP00000518889.1:n.*8257+201_*8257+202insTA
ENST00000278616.9:c.8786+201_8786+202insTA (ATM) ENSP00000278616.4:n.8786+201_8786+202insTA
ENST00000638786.2:n.1484+201_1484+202insTA (ATM)
ENST00000682286.1:n.3543+201_3543+202insTA (ATM)
ENST00000682302.1:n.3204+201_3204+202insTA (ATM)
ENST00000683174.1:n.10270+201_10270+202insTA (ATM)
ENST00000683524.1:n.4010+201_4010+202insTA (ATM)
ENST00000684152.1:n.4202+201_4202+202insTA (ATM)
ENST00000684180.1:n.1260+201_1260+202insTA (ATM)
ENST00000684447.1:n.5279+201_5279+202insTA (ATM)
ENST00000527805.6:c.*3850+201_*3850+202insTA (ATM) ENSP00000435747.2:n.*3850+201_*3850+202insTA
ENST00000675595.1:c.*3921+201_*3921+202insTA (ATM) ENSP00000502563.1:n.*3921+201_*3921+202insTA
ENST00000675843.1:c.8786+201_8786+202insTA (ATM) MANE Select ENSP00000501606.1:n.8786+201_8786+202insTA
ENST00000278616.8:c.8786+201_8786+202insTA (ATM) ENSP00000278616.4:n.8786+201_8786+202insTA
ENST00000452508.6:c.8786+201_8786+202insTA (ATM) ENSP00000388058.2:n.8786+201_8786+202insTA
ENST00000524755.5:c.227-18789_227-18788insAT (C11orf65)
ENST00000524792.5:n.5001+201_5001+202insTA (ATM)
ENST00000525178.5:n.274+201_274+202insTA (ATM)
ENST00000525729.5:c.640+31839_640+31840insAT (C11orf65) ENSP00000433395.1:n.640+31839_640+31840insAT
ENST00000526725.1:n.272-13717_272-13716insAT (C11orf65)
ENST00000527181.1:n.125+201_125+202insTA (ATM)
ENST00000527531.5:c.*1196+834_*1196+835insAT (C11orf65) ENSP00000431706.1:n.*1196+834_*1196+835insAT
ENST00000615746.4:c.*1196+834_*1196+835insAT (C11orf65) ENSP00000483537.1:n.*1196+834_*1196+835insAT
NM_000051.3:c.8786+201_8786+202insTA , LRG_135t1:c.8786+201_8786+202insTA (ATM) NP_000042.3:n.8786+201_8786+202insTA
XM_005271414.3:c.788-18789_788-18788insAT (C11orf65) XP_005271471.1:n.788-18789_788-18788insAT
XM_005271415.3:c.732-18789_732-18788insAT (C11orf65) XP_005271472.1:n.732-18789_732-18788insAT
XM_005271561.3:c.8786+201_8786+202insTA (ATM) XP_005271618.2:n.8786+201_8786+202insTA
XM_005271562.3:c.8786+201_8786+202insTA (ATM) XP_005271619.2:n.8786+201_8786+202insTA
XM_006718843.2:c.8786+201_8786+202insTA (ATM) XP_006718906.1:n.8786+201_8786+202insTA
XM_006718845.1:c.4742+201_4742+202insTA (ATM) XP_006718908.1:n.4742+201_4742+202insTA
XM_011542640.1:c.788-13717_788-13716insAT (C11orf65) XP_011540942.1:n.788-13717_788-13716insAT
XM_011542642.1:c.732-5008_732-5007insAT (C11orf65) XP_011540944.1:n.732-5008_732-5007insAT
XM_011542643.1:c.732-13717_732-13716insAT (C11orf65) XP_011540945.1:n.732-13717_732-13716insAT
XM_011542840.1:c.8786+201_8786+202insTA (ATM) XP_011541142.1:n.8786+201_8786+202insTA
XM_011542841.1:c.8786+201_8786+202insTA (ATM) XP_011541143.1:n.8786+201_8786+202insTA
XM_011542842.1:c.8621+201_8621+202insTA (ATM) XP_011541144.1:n.8621+201_8621+202insTA
XM_011542844.1:c.7742+201_7742+202insTA (ATM) XP_011541146.1:n.7742+201_7742+202insTA
XM_011542845.1:c.7478+201_7478+202insTA (ATM) XP_011541147.1:n.7478+201_7478+202insTA
XM_011542847.1:c.3857+201_3857+202insTA (ATM) XP_011541149.1:n.3857+201_3857+202insTA
NM_001330368.1:c.640+31839_640+31840insAT (C11orf65) NP_001317297.1:n.640+31839_640+31840insAT
NM_001351110.1:c.695-18789_695-18788insAT (C11orf65) NP_001338039.1:n.695-18789_695-18788insAT
NM_001351834.1:c.8786+201_8786+202insTA (ATM) NP_001338763.1:n.8786+201_8786+202insTA
NR_147053.2:n.2301+834_2301+835insAT (C11orf65)
XM_005271414.4:c.788-18789_788-18788insAT (C11orf65) XP_005271471.1:n.788-18789_788-18788insAT
XM_005271415.4:c.732-18789_732-18788insAT (C11orf65) XP_005271472.1:n.732-18789_732-18788insAT
XM_005271562.5:c.8786+201_8786+202insTA (ATM) XP_005271619.2:n.8786+201_8786+202insTA
XM_006718843.4:c.8786+201_8786+202insTA (ATM) XP_006718906.1:n.8786+201_8786+202insTA
XM_006718845.2:c.4742+201_4742+202insTA (ATM) XP_006718908.1:n.4742+201_4742+202insTA
XM_011542640.2:c.788-13717_788-13716insAT (C11orf65) XP_011540942.1:n.788-13717_788-13716insAT
XM_011542643.2:c.732-13717_732-13716insAT (C11orf65) XP_011540945.1:n.732-13717_732-13716insAT
XM_011542840.3:c.8786+201_8786+202insTA (ATM) XP_011541142.1:n.8786+201_8786+202insTA
XM_011542842.3:c.8621+201_8621+202insTA (ATM) XP_011541144.1:n.8621+201_8621+202insTA
XM_011542844.3:c.7742+201_7742+202insTA (ATM) XP_011541146.1:n.7742+201_7742+202insTA
XM_011542845.2:c.7478+201_7478+202insTA (ATM) XP_011541147.1:n.7478+201_7478+202insTA
XM_017017247.1:c.904-13717_904-13716insAT (C11orf65) XP_016872736.1:n.904-13717_904-13716insAT
XM_017017789.2:c.8786+201_8786+202insTA (ATM) XP_016873278.1:n.8786+201_8786+202insTA
XM_017017790.2:c.8786+201_8786+202insTA (ATM) XP_016873279.1:n.8786+201_8786+202insTA
NM_001330368.2:c.640+31839_640+31840insAT (C11orf65) NP_001317297.1:n.640+31839_640+31840insAT
NM_001351110.2:c.695-18789_695-18788insAT (C11orf65) NP_001338039.1:n.695-18789_695-18788insAT
NM_001351834.2:c.8786+201_8786+202insTA (ATM) NP_001338763.1:n.8786+201_8786+202insTA
NM_000051.4:c.8786+201_8786+202insTA (ATM) MANE Select NP_000042.3:n.8786+201_8786+202insTA
NR_147053.3:n.2299+834_2299+835insAT (C11orf65)
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