Canonical Allele Identifier: CA2448284793
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101359348C= , CM000685.2:g.101359348C= GRCh38
NC_000023.10:g.100614336C= , CM000685.1:g.100614336C= GRCh37
NC_000023.9:g.100500992C= NCBI36
NG_009616.1:g.31877G= , LRG_128:g.31877G=

Transcript Alleles

HGVS Amino-acid change
ENST00000464006.2:n.620-1G=
ENST00000478995.2:n.1000-1G=
ENST00000488970.2:n.998-1G=
ENST00000695614.1:c.840-1G= ENSP00000512053.1:n.840-1G=
ENST00000695615.1:c.840-1G= ENSP00000512054.1:n.840-1G=
ENST00000695616.1:c.*685-1G= ENSP00000512055.1:n.*685-1G=
ENST00000695617.1:c.837-1G= ENSP00000512056.1:n.837-1G=
ENST00000695618.1:c.*589-1G= ENSP00000512058.1:n.*589-1G=
ENST00000695619.1:c.*684+740G= ENSP00000512059.1:n.*684+740G=
ENST00000695620.1:c.*685-1G= ENSP00000512060.1:n.*685-1G=
ENST00000695621.1:c.840-1G= ENSP00000512061.1:n.840-1G=
ENST00000695622.1:c.777-1G= ENSP00000512062.1:n.777-1G=
ENST00000695623.1:c.834-1G= ENSP00000512063.1:n.834-1G=
ENST00000695624.1:n.145-1G=
ENST00000695625.1:c.840-1G= ENSP00000512064.1:n.840-1G=
ENST00000703407.1:c.840-1G= ENSP00000512057.1:n.840-1G=
ENST00000308731.8:c.840-1G= MANE Select ENSP00000308176.8:n.840-1G=
ENST00000308731.7:c.840-1G= ENSP00000308176.7:n.840-1G=
ENST00000372880.5:c.840-1G= ENSP00000361971.1:n.840-1G=
ENST00000618050.4:c.840-1G= ENSP00000479125.1:n.840-1G=
ENST00000621635.4:c.942-1G= ENSP00000483570.1:n.942-1G=
NM_000061.2:c.840-1G= , LRG_128t1:c.840-1G= NP_000052.1:n.840-1G=
NM_001287344.1:c.942-1G= NP_001274273.1:n.942-1G=
NM_001287345.1:c.840-1G= NP_001274274.1:n.840-1G=
NM_000061.3:c.840-1G= MANE Select NP_000052.1:n.840-1G=
NM_001287344.2:c.942-1G= NP_001274273.1:n.942-1G=
NM_001287345.2:c.840-1G= NP_001274274.1:n.840-1G=