Canonical Allele Identifier: CA2695235343

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353256_101353257dup , CM000685.2:g.101353256_101353257dup	GRCh38
NC_000023.10:g.100608244_100608245dup , CM000685.1:g.100608244_100608245dup	GRCh37
NC_000023.9:g.100494900_100494901dup	NCBI36
NG_009616.1:g.37971_37972dup , LRG_128:g.37971_37972dup
NG_011734.1:g.716_717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3365_3366dup
ENST00000488970.2:n.4004_4005dup
ENST00000695614.1:c.1848_1849dup	ENSP00000512053.1:p.Tyr617SerfsTer?
ENST00000695615.1:c.1848_1849dup	ENSP00000512054.1:p.Tyr617SerfsTer?
ENST00000695616.1:c.*1693_*1694dup	ENSP00000512055.1:n.*1693_*1694dup
ENST00000695617.1:c.1845_1846dup	ENSP00000512056.1:p.Tyr616SerfsTer?
ENST00000695618.1:c.*1597_*1598dup	ENSP00000512058.1:n.*1597_*1598dup
ENST00000695619.1:c.*1558_*1559dup	ENSP00000512059.1:n.*1558_*1559dup
ENST00000695620.1:c.*1774_*1775dup	ENSP00000512060.1:n.*1774_*1775dup
ENST00000695621.1:c.*273_*274dup	ENSP00000512061.1:n.*273_*274dup
ENST00000695622.1:c.1785_1786dup	ENSP00000512062.1:p.Tyr596SerfsTer?
ENST00000695623.1:c.1842_1843dup	ENSP00000512063.1:p.Tyr615SerfsTer?
ENST00000695624.1:n.1153_1154dup
ENST00000695625.1:c.1848_1849dup	ENSP00000512064.1:p.Tyr617SerfsTer22
ENST00000695626.1:c.603_604dup	ENSP00000512065.1:n.603_604dup
ENST00000695627.1:c.796_797dup	ENSP00000512066.1:n.796_797dup
ENST00000695628.1:c.407_408dup	ENSP00000512067.1:n.407_408dup
ENST00000695629.1:c.288_289dup	ENSP00000512068.1:p.Tyr97SerfsTer?
ENST00000695630.1:c.575_576dup
ENST00000695631.1:c.115-6_115-5dup
ENST00000703407.1:c.1320_1321dup	ENSP00000512057.1:p.Tyr441SerfsTer?
ENST00000308731.8:c.1848_1849dup MANE Select	ENSP00000308176.8:p.Tyr617SerfsTer?
ENST00000308731.7:c.1848_1849dup	ENSP00000308176.7:p.Tyr617SerfsTer?
ENST00000372880.5:c.1320_1321dup	ENSP00000361971.1:p.Tyr441SerfsTer?
ENST00000470069.1:n.213_214dup
ENST00000618050.4:c.1847_1848dup	ENSP00000479125.1:n.1847_1848dup
ENST00000621635.4:c.1950_1951dup	ENSP00000483570.1:p.Tyr651SerfsTer?
NM_000061.2:c.1848_1849dup , LRG_128t1:c.1848_1849dup	NP_000052.1:p.Tyr617SerfsTer?
NM_001287344.1:c.1950_1951dup	NP_001274273.1:p.Tyr651SerfsTer?
NM_001287345.1:c.1320_1321dup	NP_001274274.1:p.Tyr441SerfsTer?
NM_000061.3:c.1848_1849dup MANE Select	NP_000052.1:p.Tyr617SerfsTer?
NM_001287344.2:c.1950_1951dup	NP_001274273.1:p.Tyr651SerfsTer?
NM_001287345.2:c.1320_1321dup	NP_001274274.1:p.Tyr441SerfsTer?