Canonical Allele Identifier: CA2448282842
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101352779_101352946delinsGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAA , CM000685.2:g.101352779_101352946delinsGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAA GRCh38
NC_000023.10:g.100607767_100607934delinsGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAA , CM000685.1:g.100607767_100607934delinsGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAA GRCh37
NC_000023.9:g.100494423_100494590delinsGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAA NCBI36
NG_009616.1:g.38279_38446delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC , LRG_128:g.38279_38446delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC
NG_011734.1:g.1024_1191delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3425+248_3425+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC
ENST00000488970.2:n.4064+248_4064+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC
ENST00000695614.1:c.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512053.1:n.1908+248_1908+415delinsTTATAGGCGTGCACCACC...
ENST00000695615.1:c.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512054.1:n.1908+248_1908+415delinsTTATAGGCGTGCACCACC...
ENST00000695616.1:c.*1753+248_*1753+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512055.1:n.*1753+248_*1753+415delinsTTATAGGCGTGCACCA...
ENST00000695617.1:c.1905+248_1905+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512056.1:n.1905+248_1905+415delinsTTATAGGCGTGCACCACC...
ENST00000695618.1:c.*1657+248_*1657+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512058.1:n.*1657+248_*1657+415delinsTTATAGGCGTGCACCA...
ENST00000695619.1:c.*1618+248_*1618+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512059.1:n.*1618+248_*1618+415delinsTTATAGGCGTGCACCA...
ENST00000695620.1:c.*1834+248_*1834+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512060.1:n.*1834+248_*1834+415delinsTTATAGGCGTGCACCA...
ENST00000695621.1:c.*333+248_*333+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512061.1:n.*333+248_*333+415delinsTTATAGGCGTGCACCACC...
ENST00000695622.1:c.1845+248_1845+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512062.1:n.1845+248_1845+415delinsTTATAGGCGTGCACCACC...
ENST00000695623.1:c.1902+248_1902+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512063.1:n.1902+248_1902+415delinsTTATAGGCGTGCACCACC...
ENST00000695624.1:n.1213+248_1213+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC
ENST00000695625.1:c.1875+281_1875+448delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512064.1:n.1875+281_1875+448delinsTTATAGGCGTGCACCACC...
ENST00000695626.1:c.663+248_663+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512065.1:n.663+248_663+415delinsTTATAGGCGTGCACCACCAC...
ENST00000695627.1:c.856+248_856+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512066.1:n.856+248_856+415delinsTTATAGGCGTGCACCACCAC...
ENST00000695628.1:c.467+248_467+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512067.1:n.467+248_467+415delinsTTATAGGCGTGCACCACCAC...
ENST00000695629.1:c.348+248_348+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512068.1:n.348+248_348+415delinsTTATAGGCGTGCACCACCAC...
ENST00000695630.1:c.635+248_635+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC
ENST00000695631.1:c.169+248_169+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC
ENST00000703407.1:c.1380+248_1380+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000512057.1:n.1380+248_1380+415delinsTTATAGGCGTGCACCACC...
ENST00000308731.8:c.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC MANE Select ENSP00000308176.8:n.1908+248_1908+415delinsTTATAGGCGTGCACCACC...
ENST00000308731.7:c.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000308176.7:n.1908+248_1908+415delinsTTATAGGCGTGCACCACC...
ENST00000372880.5:c.1380+248_1380+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000361971.1:n.1380+248_1380+415delinsTTATAGGCGTGCACCACC...
ENST00000618050.4:c.1907+248_1907+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000479125.1:n.1907+248_1907+415delinsTTATAGGCGTGCACCACC...
ENST00000621635.4:c.2010+248_2010+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC ENSP00000483570.1:n.2010+248_2010+415delinsTTATAGGCGTGCACCACC...
NM_000061.2:c.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC , LRG_128t1:c.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC NP_000052.1:n.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCA...
NM_001287344.1:c.2010+248_2010+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC NP_001274273.1:n.2010+248_2010+415delinsTTATAGGCGTGCACCACCACA...
NM_001287345.1:c.1380+248_1380+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC NP_001274274.1:n.1380+248_1380+415delinsTTATAGGCGTGCACCACCACA...
NM_000061.3:c.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC MANE Select NP_000052.1:n.1908+248_1908+415delinsTTATAGGCGTGCACCACCACACCA...
NM_001287344.2:c.2010+248_2010+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC NP_001274273.1:n.2010+248_2010+415delinsTTATAGGCGTGCACCACCACA...
NM_001287345.2:c.1380+248_1380+415delinsTTATAGGCGTGCACCACCACACCAAGCTAATTTTTTTTTTTTTTTTTGGTGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC NP_001274274.1:n.1380+248_1380+415delinsTTATAGGCGTGCACCACCACA...