Canonical Allele Identifier: CA1998820738
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2089548978

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354008_108354021del , CM000673.2:g.108354008_108354021del GRCh38
NC_000011.9:g.108224735_108224748del , CM000673.1:g.108224735_108224748del GRCh37
NC_000011.8:g.107729945_107729958del NCBI36
NG_009830.1:g.136177_136190del , LRG_135:g.136177_136190del
NG_054724.1:g.120816_120829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8786+128_8786+141del (ATM) ENSP00000388058.2:n.8786+128_8786+141del
ENST00000713593.1:c.*8257+128_*8257+141del (ATM) ENSP00000518889.1:n.*8257+128_*8257+141del
ENST00000278616.9:c.8786+128_8786+141del (ATM) ENSP00000278616.4:n.8786+128_8786+141del
ENST00000638786.2:n.1484+128_1484+141del (ATM)
ENST00000682286.1:n.3543+128_3543+141del (ATM)
ENST00000682302.1:n.3204+128_3204+141del (ATM)
ENST00000683174.1:n.10270+128_10270+141del (ATM)
ENST00000683524.1:n.4010+128_4010+141del (ATM)
ENST00000684152.1:n.4202+128_4202+141del (ATM)
ENST00000684180.1:n.1260+128_1260+141del (ATM)
ENST00000684447.1:n.5279+128_5279+141del (ATM)
ENST00000527805.6:c.*3850+128_*3850+141del (ATM) ENSP00000435747.2:n.*3850+128_*3850+141del
ENST00000675595.1:c.*3921+128_*3921+141del (ATM) ENSP00000502563.1:n.*3921+128_*3921+141del
ENST00000675843.1:c.8786+128_8786+141del (ATM) MANE Select ENSP00000501606.1:n.8786+128_8786+141del
ENST00000278616.8:c.8786+128_8786+141del (ATM) ENSP00000278616.4:n.8786+128_8786+141del
ENST00000452508.6:c.8786+128_8786+141del (ATM) ENSP00000388058.2:n.8786+128_8786+141del
ENST00000524755.5:c.227-18725_227-18712del (C11orf65)
ENST00000524792.5:n.5001+128_5001+141del (ATM)
ENST00000525178.5:n.274+128_274+141del (ATM)
ENST00000525729.5:c.640+31903_640+31916del (C11orf65) ENSP00000433395.1:n.640+31903_640+31916del
ENST00000526725.1:n.272-13653_272-13640del (C11orf65)
ENST00000527181.1:n.125+128_125+141del (ATM)
ENST00000527531.5:c.*1196+898_*1196+911del (C11orf65) ENSP00000431706.1:n.*1196+898_*1196+911del
ENST00000615746.4:c.*1196+898_*1196+911del (C11orf65) ENSP00000483537.1:n.*1196+898_*1196+911del
NM_000051.3:c.8786+128_8786+141del , LRG_135t1:c.8786+128_8786+141del (ATM) NP_000042.3:n.8786+128_8786+141del
XM_005271414.3:c.788-18725_788-18712del (C11orf65) XP_005271471.1:n.788-18725_788-18712del
XM_005271415.3:c.732-18725_732-18712del (C11orf65) XP_005271472.1:n.732-18725_732-18712del
XM_005271561.3:c.8786+128_8786+141del (ATM) XP_005271618.2:n.8786+128_8786+141del
XM_005271562.3:c.8786+128_8786+141del (ATM) XP_005271619.2:n.8786+128_8786+141del
XM_006718843.2:c.8786+128_8786+141del (ATM) XP_006718906.1:n.8786+128_8786+141del
XM_006718845.1:c.4742+128_4742+141del (ATM) XP_006718908.1:n.4742+128_4742+141del
XM_011542640.1:c.788-13653_788-13640del (C11orf65) XP_011540942.1:n.788-13653_788-13640del
XM_011542642.1:c.732-4944_732-4931del (C11orf65) XP_011540944.1:n.732-4944_732-4931del
XM_011542643.1:c.732-13653_732-13640del (C11orf65) XP_011540945.1:n.732-13653_732-13640del
XM_011542840.1:c.8786+128_8786+141del (ATM) XP_011541142.1:n.8786+128_8786+141del
XM_011542841.1:c.8786+128_8786+141del (ATM) XP_011541143.1:n.8786+128_8786+141del
XM_011542842.1:c.8621+128_8621+141del (ATM) XP_011541144.1:n.8621+128_8621+141del
XM_011542844.1:c.7742+128_7742+141del (ATM) XP_011541146.1:n.7742+128_7742+141del
XM_011542845.1:c.7478+128_7478+141del (ATM) XP_011541147.1:n.7478+128_7478+141del
XM_011542847.1:c.3857+128_3857+141del (ATM) XP_011541149.1:n.3857+128_3857+141del
NM_001330368.1:c.640+31903_640+31916del (C11orf65) NP_001317297.1:n.640+31903_640+31916del
NM_001351110.1:c.695-18725_695-18712del (C11orf65) NP_001338039.1:n.695-18725_695-18712del
NM_001351834.1:c.8786+128_8786+141del (ATM) NP_001338763.1:n.8786+128_8786+141del
NR_147053.2:n.2301+898_2301+911del (C11orf65)
XM_005271414.4:c.788-18725_788-18712del (C11orf65) XP_005271471.1:n.788-18725_788-18712del
XM_005271415.4:c.732-18725_732-18712del (C11orf65) XP_005271472.1:n.732-18725_732-18712del
XM_005271562.5:c.8786+128_8786+141del (ATM) XP_005271619.2:n.8786+128_8786+141del
XM_006718843.4:c.8786+128_8786+141del (ATM) XP_006718906.1:n.8786+128_8786+141del
XM_006718845.2:c.4742+128_4742+141del (ATM) XP_006718908.1:n.4742+128_4742+141del
XM_011542640.2:c.788-13653_788-13640del (C11orf65) XP_011540942.1:n.788-13653_788-13640del
XM_011542643.2:c.732-13653_732-13640del (C11orf65) XP_011540945.1:n.732-13653_732-13640del
XM_011542840.3:c.8786+128_8786+141del (ATM) XP_011541142.1:n.8786+128_8786+141del
XM_011542842.3:c.8621+128_8621+141del (ATM) XP_011541144.1:n.8621+128_8621+141del
XM_011542844.3:c.7742+128_7742+141del (ATM) XP_011541146.1:n.7742+128_7742+141del
XM_011542845.2:c.7478+128_7478+141del (ATM) XP_011541147.1:n.7478+128_7478+141del
XM_017017247.1:c.904-13653_904-13640del (C11orf65) XP_016872736.1:n.904-13653_904-13640del
XM_017017789.2:c.8786+128_8786+141del (ATM) XP_016873278.1:n.8786+128_8786+141del
XM_017017790.2:c.8786+128_8786+141del (ATM) XP_016873279.1:n.8786+128_8786+141del
NM_001330368.2:c.640+31903_640+31916del (C11orf65) NP_001317297.1:n.640+31903_640+31916del
NM_001351110.2:c.695-18725_695-18712del (C11orf65) NP_001338039.1:n.695-18725_695-18712del
NM_001351834.2:c.8786+128_8786+141del (ATM) NP_001338763.1:n.8786+128_8786+141del
NM_000051.4:c.8786+128_8786+141del (ATM) MANE Select NP_000042.3:n.8786+128_8786+141del
NR_147053.3:n.2299+898_2299+911del (C11orf65)