Canonical Allele Identifier: CA2839224604

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353327dup , CM000685.2:g.101353327dup	GRCh38
NC_000023.10:g.100608315dup , CM000685.1:g.100608315dup	GRCh37
NC_000023.9:g.100494971dup	NCBI36
NG_009616.1:g.37900dup , LRG_128:g.37900dup
NG_011734.1:g.645dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3294dup
ENST00000488970.2:n.3933dup
ENST00000695614.1:c.1777dup	ENSP00000512053.1:p.Leu593ProfsTer7
ENST00000695615.1:c.1777dup	ENSP00000512054.1:p.Leu593ProfsTer7
ENST00000695616.1:c.*1622dup	ENSP00000512055.1:n.*1622dup
ENST00000695617.1:c.1774dup	ENSP00000512056.1:p.Leu592ProfsTer7
ENST00000695618.1:c.*1526dup	ENSP00000512058.1:n.*1526dup
ENST00000695619.1:c.*1487dup	ENSP00000512059.1:n.*1487dup
ENST00000695620.1:c.*1703dup	ENSP00000512060.1:n.*1703dup
ENST00000695621.1:c.*202dup	ENSP00000512061.1:n.*202dup
ENST00000695622.1:c.1714dup	ENSP00000512062.1:p.Leu572ProfsTer7
ENST00000695623.1:c.1771dup	ENSP00000512063.1:p.Leu591ProfsTer7
ENST00000695624.1:n.1082dup
ENST00000695625.1:c.1777dup	ENSP00000512064.1:p.Leu593ProfsTer7
ENST00000695626.1:c.532dup	ENSP00000512065.1:n.532dup
ENST00000695627.1:c.725dup	ENSP00000512066.1:n.725dup
ENST00000695628.1:c.336dup	ENSP00000512067.1:n.336dup
ENST00000695629.1:c.217dup	ENSP00000512068.1:p.Leu73ProfsTer7
ENST00000695630.1:c.504dup
ENST00000695631.1:c.115-77dup
ENST00000703407.1:c.1249dup	ENSP00000512057.1:p.Leu417ProfsTer7
ENST00000308731.8:c.1777dup MANE Select	ENSP00000308176.8:p.Leu593ProfsTer7
ENST00000308731.7:c.1777dup	ENSP00000308176.7:p.Leu593ProfsTer7
ENST00000372880.5:c.1249dup	ENSP00000361971.1:p.Leu417ProfsTer7
ENST00000470069.1:n.142dup
ENST00000488970.1:n.379dup
ENST00000618050.4:c.1776dup	ENSP00000479125.1:n.1776dup
ENST00000621635.4:c.1879dup	ENSP00000483570.1:p.Leu627ProfsTer7
NM_000061.2:c.1777dup , LRG_128t1:c.1777dup	NP_000052.1:p.Leu593ProfsTer7
NM_001287344.1:c.1879dup	NP_001274273.1:p.Leu627ProfsTer7
NM_001287345.1:c.1249dup	NP_001274274.1:p.Leu417ProfsTer7
NM_000061.3:c.1777dup MANE Select	NP_000052.1:p.Leu593ProfsTer7
NM_001287344.2:c.1879dup	NP_001274273.1:p.Leu627ProfsTer7
NM_001287345.2:c.1249dup	NP_001274274.1:p.Leu417ProfsTer7