Canonical Allele Identifier: CA2448284756
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101359220G= , CM000685.2:g.101359220G= GRCh38
NC_000023.10:g.100614208G= , CM000685.1:g.100614208G= GRCh37
NC_000023.9:g.100500864G= NCBI36
NG_009616.1:g.32005C= , LRG_128:g.32005C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000464006.2:n.674+73C=
ENST00000478995.2:n.1054+73C=
ENST00000488970.2:n.1052+73C=
ENST00000695614.1:c.894+73C= ENSP00000512053.1:n.894+73C=
ENST00000695615.1:c.894+73C= ENSP00000512054.1:n.894+73C=
ENST00000695616.1:c.*739+73C= ENSP00000512055.1:n.*739+73C=
ENST00000695617.1:c.891+73C= ENSP00000512056.1:n.891+73C=
ENST00000695618.1:c.*643+73C= ENSP00000512058.1:n.*643+73C=
ENST00000695619.1:c.*685-783C= ENSP00000512059.1:n.*685-783C=
ENST00000695620.1:c.*739+73C= ENSP00000512060.1:n.*739+73C=
ENST00000695621.1:c.894+73C= ENSP00000512061.1:n.894+73C=
ENST00000695622.1:c.831+73C= ENSP00000512062.1:n.831+73C=
ENST00000695623.1:c.888+73C= ENSP00000512063.1:n.888+73C=
ENST00000695624.1:n.199+73C=
ENST00000695625.1:c.894+73C= ENSP00000512064.1:n.894+73C=
ENST00000703407.1:c.894+73C= ENSP00000512057.1:n.894+73C=
ENST00000308731.8:c.894+73C= MANE Select ENSP00000308176.8:n.894+73C=
ENST00000308731.7:c.894+73C= ENSP00000308176.7:n.894+73C=
ENST00000372880.5:c.894+73C= ENSP00000361971.1:n.894+73C=
ENST00000618050.4:c.894+73C= ENSP00000479125.1:n.894+73C=
ENST00000621635.4:c.996+73C= ENSP00000483570.1:n.996+73C=
NM_000061.2:c.894+73C= , LRG_128t1:c.894+73C= NP_000052.1:n.894+73C=
NM_001287344.1:c.996+73C= NP_001274273.1:n.996+73C=
NM_001287345.1:c.894+73C= NP_001274274.1:n.894+73C=
NM_000061.3:c.894+73C= MANE Select NP_000052.1:n.894+73C=
NM_001287344.2:c.996+73C= NP_001274273.1:n.996+73C=
NM_001287345.2:c.894+73C= NP_001274274.1:n.894+73C=