Canonical Allele Identifier: CA2448284308
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356764G= , CM000685.2:g.101356764G= GRCh38
NC_000023.10:g.100611752G= , CM000685.1:g.100611752G= GRCh37
NC_000023.9:g.100498408G= NCBI36
NG_009616.1:g.34461C= , LRG_128:g.34461C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.1509+20C=
ENST00000488970.2:n.1507+20C=
ENST00000695614.1:c.1349+20C= ENSP00000512053.1:n.1349+20C=
ENST00000695615.1:c.1349+20C= ENSP00000512054.1:n.1349+20C=
ENST00000695616.1:c.*1194+20C= ENSP00000512055.1:n.*1194+20C=
ENST00000695617.1:c.1346+20C= ENSP00000512056.1:n.1346+20C=
ENST00000695618.1:c.*1098+20C= ENSP00000512058.1:n.*1098+20C=
ENST00000695619.1:c.*1059+20C= ENSP00000512059.1:n.*1059+20C=
ENST00000695620.1:c.*1194+20C= ENSP00000512060.1:n.*1194+20C=
ENST00000695621.1:c.1349+20C= ENSP00000512061.1:n.1349+20C=
ENST00000695622.1:c.1286+20C= ENSP00000512062.1:n.1286+20C=
ENST00000695623.1:c.1343+20C= ENSP00000512063.1:n.1343+20C=
ENST00000695624.1:n.654+20C=
ENST00000695625.1:c.1349+20C= ENSP00000512064.1:n.1349+20C=
ENST00000695626.1:c.321+20C= ENSP00000512065.1:n.321+20C=
ENST00000695627.1:c.362+20C= ENSP00000512066.1:n.362+20C=
ENST00000695628.1:c.190+745C= ENSP00000512067.1:n.190+745C=
ENST00000695629.1:c.190+745C= ENSP00000512068.1:n.190+745C=
ENST00000695630.1:c.358+20C=
ENST00000695631.1:c.114+1546C=
ENST00000695632.1:n.366+20C=
ENST00000703407.1:c.1038+1610C= ENSP00000512057.1:n.1038+1610C=
ENST00000308731.8:c.1349+20C= MANE Select ENSP00000308176.8:n.1349+20C=
ENST00000308731.7:c.1349+20C= ENSP00000308176.7:n.1349+20C=
ENST00000372880.5:c.1038+1610C= ENSP00000361971.1:n.1038+1610C=
ENST00000470329.1:n.319C=
ENST00000478995.1:n.21+20C=
ENST00000618050.4:c.1349+20C= ENSP00000479125.1:n.1349+20C=
ENST00000621635.4:c.1451+20C= ENSP00000483570.1:n.1451+20C=
NM_000061.2:c.1349+20C= , LRG_128t1:c.1349+20C= NP_000052.1:n.1349+20C=
NM_001287344.1:c.1451+20C= NP_001274273.1:n.1451+20C=
NM_001287345.1:c.1038+1610C= NP_001274274.1:n.1038+1610C=
NM_000061.3:c.1349+20C= MANE Select NP_000052.1:n.1349+20C=
NM_001287344.2:c.1451+20C= NP_001274273.1:n.1451+20C=
NM_001287345.2:c.1038+1610C= NP_001274274.1:n.1038+1610C=