Canonical Allele Identifier: CA915951302

Gene: BTK

Linked Data

• ClinVar Variation Id: 804063
• ClinVar RCV Id: RCV000990915
• dbSNP Id: rs1603001771

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353319dup , CM000685.2:g.101353319dup	GRCh38
NC_000023.10:g.100608307dup , CM000685.1:g.100608307dup	GRCh37
NC_000023.9:g.100494963dup	NCBI36
NG_009616.1:g.37907dup , LRG_128:g.37907dup
NG_011734.1:g.652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3301dup
ENST00000488970.2:n.3940dup
ENST00000695614.1:c.1784dup	ENSP00000512053.1:p.Met596AspfsTer4
ENST00000695615.1:c.1784dup	ENSP00000512054.1:p.Met596AspfsTer4
ENST00000695616.1:c.*1629dup	ENSP00000512055.1:n.*1629dup
ENST00000695617.1:c.1781dup	ENSP00000512056.1:p.Met595AspfsTer4
ENST00000695618.1:c.*1533dup	ENSP00000512058.1:n.*1533dup
ENST00000695619.1:c.*1494dup	ENSP00000512059.1:n.*1494dup
ENST00000695620.1:c.*1710dup	ENSP00000512060.1:n.*1710dup
ENST00000695621.1:c.*209dup	ENSP00000512061.1:n.*209dup
ENST00000695622.1:c.1721dup	ENSP00000512062.1:p.Met575AspfsTer4
ENST00000695623.1:c.1778dup	ENSP00000512063.1:p.Met594AspfsTer4
ENST00000695624.1:n.1089dup
ENST00000695625.1:c.1784dup	ENSP00000512064.1:p.Met596AspfsTer4
ENST00000695626.1:c.539dup	ENSP00000512065.1:n.539dup
ENST00000695627.1:c.732dup	ENSP00000512066.1:n.732dup
ENST00000695628.1:c.343dup	ENSP00000512067.1:n.343dup
ENST00000695629.1:c.224dup	ENSP00000512068.1:p.Met76AspfsTer4
ENST00000695630.1:c.511dup
ENST00000695631.1:c.115-70dup
ENST00000703407.1:c.1256dup	ENSP00000512057.1:p.Met420AspfsTer4
ENST00000308731.8:c.1784dup MANE Select	ENSP00000308176.8:p.Met596AspfsTer4
ENST00000308731.7:c.1784dup	ENSP00000308176.7:p.Met596AspfsTer4
ENST00000372880.5:c.1256dup	ENSP00000361971.1:p.Met420AspfsTer4
ENST00000470069.1:n.149dup
ENST00000618050.4:c.1783dup	ENSP00000479125.1:n.1783dup
ENST00000621635.4:c.1886dup	ENSP00000483570.1:p.Met630AspfsTer4
NM_000061.2:c.1784dup , LRG_128t1:c.1784dup	NP_000052.1:p.Met596AspfsTer4
NM_001287344.1:c.1886dup	NP_001274273.1:p.Met630AspfsTer4
NM_001287345.1:c.1256dup	NP_001274274.1:p.Met420AspfsTer4
NM_000061.3:c.1784dup MANE Select	NP_000052.1:p.Met596AspfsTer4
NM_001287344.2:c.1886dup	NP_001274273.1:p.Met630AspfsTer4
NM_001287345.2:c.1256dup	NP_001274274.1:p.Met420AspfsTer4