Canonical Allele Identifier: CA2448284776
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101359286C= , CM000685.2:g.101359286C= GRCh38
NC_000023.10:g.100614274C= , CM000685.1:g.100614274C= GRCh37
NC_000023.9:g.100500930C= NCBI36
NG_009616.1:g.31939G= , LRG_128:g.31939G=

Transcript Alleles

HGVS Amino-acid change
ENST00000464006.2:n.674+7G=
ENST00000478995.2:n.1054+7G=
ENST00000488970.2:n.1052+7G=
ENST00000695614.1:c.894+7G= ENSP00000512053.1:n.894+7G=
ENST00000695615.1:c.894+7G= ENSP00000512054.1:n.894+7G=
ENST00000695616.1:c.*739+7G= ENSP00000512055.1:n.*739+7G=
ENST00000695617.1:c.891+7G= ENSP00000512056.1:n.891+7G=
ENST00000695618.1:c.*643+7G= ENSP00000512058.1:n.*643+7G=
ENST00000695619.1:c.*684+802G= ENSP00000512059.1:n.*684+802G=
ENST00000695620.1:c.*739+7G= ENSP00000512060.1:n.*739+7G=
ENST00000695621.1:c.894+7G= ENSP00000512061.1:n.894+7G=
ENST00000695622.1:c.831+7G= ENSP00000512062.1:n.831+7G=
ENST00000695623.1:c.888+7G= ENSP00000512063.1:n.888+7G=
ENST00000695624.1:n.199+7G=
ENST00000695625.1:c.894+7G= ENSP00000512064.1:n.894+7G=
ENST00000703407.1:c.894+7G= ENSP00000512057.1:n.894+7G=
ENST00000308731.8:c.894+7G= MANE Select ENSP00000308176.8:n.894+7G=
ENST00000308731.7:c.894+7G= ENSP00000308176.7:n.894+7G=
ENST00000372880.5:c.894+7G= ENSP00000361971.1:n.894+7G=
ENST00000618050.4:c.894+7G= ENSP00000479125.1:n.894+7G=
ENST00000621635.4:c.996+7G= ENSP00000483570.1:n.996+7G=
NM_000061.2:c.894+7G= , LRG_128t1:c.894+7G= NP_000052.1:n.894+7G=
NM_001287344.1:c.996+7G= NP_001274273.1:n.996+7G=
NM_001287345.1:c.894+7G= NP_001274274.1:n.894+7G=
NM_000061.3:c.894+7G= MANE Select NP_000052.1:n.894+7G=
NM_001287344.2:c.996+7G= NP_001274273.1:n.996+7G=
NM_001287345.2:c.894+7G= NP_001274274.1:n.894+7G=