Canonical Allele Identifier: CA2542899590
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101357718_101357719insGGCGTCTGACCATGCGCGAGGTGGCCGACGCCGTCATCGAGCAGGTCGGTTCGACCAAGAAGGACTAAGCGCCCACTGATCGCCCCGTGCGTTGCCCAGCGCGGCGCGGCGCCTCAGGTGAACAGGCTGCG , CM000685.2:g.101357718_101357719insGGCGTCTGACCATGCGCGAGGTGGCCGACGCCGTCATCGAGCAGGTCGGTTCGACCAAGAAGGACTAAGCGCCCACTGATCGCCCCGTGCGTTGCCCAGCGCGGCGCGGCGCCTCAGGTGAACAGGCTGCG GRCh38
NC_000023.10:g.100612706_100612707insGGCGTCTGACCATGCGCGAGGTGGCCGACGCCGTCATCGAGCAGGTCGGTTCGACCAAGAAGGACTAAGCGCCCACTGATCGCCCCGTGCGTTGCCCAGCGCGGCGCGGCGCCTCAGGTGAACAGGCTGCG , CM000685.1:g.100612706_100612707insGGCGTCTGACCATGCGCGAGGTGGCCGACGCCGTCATCGAGCAGGTCGGTTCGACCAAGAAGGACTAAGCGCCCACTGATCGCCCCGTGCGTTGCCCAGCGCGGCGCGGCGCCTCAGGTGAACAGGCTGCG GRCh37
NC_000023.9:g.100499362_100499363insGGCGTCTGACCATGCGCGAGGTGGCCGACGCCGTCATCGAGCAGGTCGGTTCGACCAAGAAGGACTAAGCGCCCACTGATCGCCCCGTGCGTTGCCCAGCGCGGCGCGGCGCCTCAGGTGAACAGGCTGCG NCBI36
NG_009616.1:g.33506_33507insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC , LRG_128:g.33506_33507insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.1263-136_1263-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC
ENST00000488970.2:n.1261-136_1261-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC
ENST00000695614.1:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512053.1:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695615.1:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512054.1:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695616.1:c.*948-136_*948-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512055.1:n.*948-136_*948-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695617.1:c.1100-136_1100-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512056.1:n.1100-136_1100-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695618.1:c.*852-136_*852-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512058.1:n.*852-136_*852-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695619.1:c.*813-136_*813-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512059.1:n.*813-136_*813-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695620.1:c.*948-136_*948-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512060.1:n.*948-136_*948-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695621.1:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512061.1:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695622.1:c.1040-136_1040-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512062.1:n.1040-136_1040-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695623.1:c.1097-136_1097-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512063.1:n.1097-136_1097-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695624.1:n.408-136_408-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC
ENST00000695625.1:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512064.1:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000695626.1:c.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512065.1:n.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGC...
ENST00000695627.1:c.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512066.1:n.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGC...
ENST00000695628.1:c.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512067.1:n.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGC...
ENST00000695629.1:c.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512068.1:n.116-136_116-135insCGCAGCCTGTTCACCTGAGGCGC...
ENST00000695630.1:c.112-136_112-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC
ENST00000695631.1:c.114+591_114+592insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC
ENST00000695632.1:n.120-136_120-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC
ENST00000703407.1:c.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000512057.1:n.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGC...
ENST00000308731.8:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC MANE Select ENSP00000308176.8:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000308731.7:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000308176.7:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000372880.5:c.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000361971.1:n.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGC...
ENST00000470329.1:n.53-136_53-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC
ENST00000618050.4:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000479125.1:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGC...
ENST00000621635.4:c.1205-136_1205-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC ENSP00000483570.1:n.1205-136_1205-135insCGCAGCCTGTTCACCTGAGGC...
NM_000061.2:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC , LRG_128t1:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC NP_000052.1:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCG...
NM_001287344.1:c.1205-136_1205-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC NP_001274273.1:n.1205-136_1205-135insCGCAGCCTGTTCACCTGAGGCGCC...
NM_001287345.1:c.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC NP_001274274.1:n.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGCGCC...
NM_000061.3:c.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC MANE Select NP_000052.1:n.1103-136_1103-135insCGCAGCCTGTTCACCTGAGGCGCCGCG...
NM_001287344.2:c.1205-136_1205-135insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC NP_001274273.1:n.1205-136_1205-135insCGCAGCCTGTTCACCTGAGGCGCC...
NM_001287345.2:c.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGCGCCGCGCCGCGCTGGGCAACGCACGGGGCGATCAGTGGGCGCTTAGTCCTTCTTGGTCGAACCGACCTGCTCGATGACGGCGTCGGCCACCTCGCGCATGGTCAGACGCC NP_001274274.1:n.1038+655_1038+656insCGCAGCCTGTTCACCTGAGGCGCC...