Canonical Allele Identifier: CA2739273640
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 2807106
ClinVar RCV Id: RCV003625123

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356853_101356854delinsTT , CM000685.2:g.101356853_101356854delinsTT GRCh38
NC_000023.10:g.100611841_100611842delinsTT , CM000685.1:g.100611841_100611842delinsTT GRCh37
NC_000023.9:g.100498497_100498498delinsTT NCBI36
NG_009616.1:g.34371_34372delinsAA , LRG_128:g.34371_34372delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.1439_1440delinsAA
ENST00000488970.2:n.1437_1438delinsAA
ENST00000695614.1:c.1279_1280delinsAA ENSP00000512053.1:p.Val427Lys
ENST00000695615.1:c.1279_1280delinsAA ENSP00000512054.1:p.Val427Lys
ENST00000695616.1:c.*1124_*1125delinsAA ENSP00000512055.1:n.*1124_*1125delinsAA
ENST00000695617.1:c.1276_1277delinsAA ENSP00000512056.1:p.Val426Lys
ENST00000695618.1:c.*1028_*1029delinsAA ENSP00000512058.1:n.*1028_*1029delinsAA
ENST00000695619.1:c.*989_*990delinsAA ENSP00000512059.1:n.*989_*990delinsAA
ENST00000695620.1:c.*1124_*1125delinsAA ENSP00000512060.1:n.*1124_*1125delinsAA
ENST00000695621.1:c.1279_1280delinsAA ENSP00000512061.1:p.Val427Lys
ENST00000695622.1:c.1216_1217delinsAA ENSP00000512062.1:p.Val406Lys
ENST00000695623.1:c.1273_1274delinsAA ENSP00000512063.1:p.Val425Lys
ENST00000695624.1:n.584_585delinsAA
ENST00000695625.1:c.1279_1280delinsAA ENSP00000512064.1:p.Val427Lys
ENST00000695626.1:c.251_252delinsAA ENSP00000512065.1:p.Arg84Gln
ENST00000695627.1:c.292_293delinsAA ENSP00000512066.1:p.Val98Lys
ENST00000695628.1:c.190+655_190+656delinsAA ENSP00000512067.1:n.190+655_190+656delins...
ENST00000695629.1:c.190+655_190+656delinsAA ENSP00000512068.1:n.190+655_190+656delins...
ENST00000695630.1:c.288_289delinsAA
ENST00000695631.1:c.114+1456_114+1457delinsAA
ENST00000695632.1:n.296_297delinsAA
ENST00000703407.1:c.1038+1520_1038+1521delinsAA ENSP00000512057.1:n.1038+1520_1038+1521de...
ENST00000308731.8:c.1279_1280delinsAA MANE Select ENSP00000308176.8:p.Val427Lys
ENST00000308731.7:c.1279_1280delinsAA ENSP00000308176.7:p.Val427Lys
ENST00000372880.5:c.1038+1520_1038+1521delinsAA ENSP00000361971.1:n.1038+1520_1038+1521de...
ENST00000470329.1:n.229_230delinsAA
ENST00000618050.4:c.1279_1280delinsAA ENSP00000479125.1:p.Val427Lys
ENST00000621635.4:c.1381_1382delinsAA ENSP00000483570.1:p.Val461Lys
NM_000061.2:c.1279_1280delinsAA , LRG_128t1:c.1279_1280delinsAA NP_000052.1:p.Val427Lys
NM_001287344.1:c.1381_1382delinsAA NP_001274273.1:p.Val461Lys
NM_001287345.1:c.1038+1520_1038+1521delinsAA NP_001274274.1:n.1038+1520_1038+1521delin...
NM_000061.3:c.1279_1280delinsAA MANE Select NP_000052.1:p.Val427Lys
NM_001287344.2:c.1381_1382delinsAA NP_001274273.1:p.Val461Lys
NM_001287345.2:c.1038+1520_1038+1521delinsAA NP_001274274.1:n.1038+1520_1038+1521delin...