Canonical Allele Identifier: CA2499226278

Gene: BTK

Linked Data

• ClinVar Variation Id: 1299203
• ClinVar RCV Id: RCV001725828
• dbSNP Id: rs2147424002

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353219_101353222dup , CM000685.2:g.101353219_101353222dup	GRCh38
NC_000023.10:g.100608207_100608210dup , CM000685.1:g.100608207_100608210dup	GRCh37
NC_000023.9:g.100494863_100494866dup	NCBI36
NG_009616.1:g.38003_38006dup , LRG_128:g.38003_38006dup
NG_011734.1:g.748_751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3397_3400dup
ENST00000488970.2:n.4036_4039dup
ENST00000695614.1:c.1880_1883dup	ENSP00000512053.1:p.Ile629TyrfsTer9
ENST00000695615.1:c.1880_1883dup	ENSP00000512054.1:p.Ile629TyrfsTer9
ENST00000695616.1:c.*1725_*1728dup	ENSP00000512055.1:n.*1725_*1728dup
ENST00000695617.1:c.1877_1880dup	ENSP00000512056.1:p.Ile628TyrfsTer9
ENST00000695618.1:c.*1629_*1632dup	ENSP00000512058.1:n.*1629_*1632dup
ENST00000695619.1:c.*1590_*1593dup	ENSP00000512059.1:n.*1590_*1593dup
ENST00000695620.1:c.*1806_*1809dup	ENSP00000512060.1:n.*1806_*1809dup
ENST00000695621.1:c.*305_*308dup	ENSP00000512061.1:n.*305_*308dup
ENST00000695622.1:c.1817_1820dup	ENSP00000512062.1:p.Ile608TyrfsTer9
ENST00000695623.1:c.1874_1877dup	ENSP00000512063.1:p.Ile627TyrfsTer9
ENST00000695624.1:n.1185_1188dup
ENST00000695625.1:c.1875+5_1875+8dup	ENSP00000512064.1:n.1875+5_1875+8dup
ENST00000695626.1:c.635_638dup	ENSP00000512065.1:n.635_638dup
ENST00000695627.1:c.828_831dup	ENSP00000512066.1:n.828_831dup
ENST00000695628.1:c.439_442dup	ENSP00000512067.1:n.439_442dup
ENST00000695629.1:c.320_323dup	ENSP00000512068.1:p.Ile109TyrfsTer9
ENST00000695630.1:c.607_610dup
ENST00000695631.1:c.141_144dup
ENST00000703407.1:c.1352_1355dup	ENSP00000512057.1:p.Ile453TyrfsTer9
ENST00000308731.8:c.1880_1883dup MANE Select	ENSP00000308176.8:p.Ile629TyrfsTer9
ENST00000308731.7:c.1880_1883dup	ENSP00000308176.7:p.Ile629TyrfsTer9
ENST00000372880.5:c.1352_1355dup	ENSP00000361971.1:p.Ile453TyrfsTer9
ENST00000470069.1:n.245_248dup
ENST00000618050.4:c.1879_1882dup	ENSP00000479125.1:n.1879_1882dup
ENST00000621635.4:c.1982_1985dup	ENSP00000483570.1:p.Ile663TyrfsTer9
NM_000061.2:c.1880_1883dup , LRG_128t1:c.1880_1883dup	NP_000052.1:p.Ile629TyrfsTer9
NM_001287344.1:c.1982_1985dup	NP_001274273.1:p.Ile663TyrfsTer9
NM_001287345.1:c.1352_1355dup	NP_001274274.1:p.Ile453TyrfsTer9
NM_000061.3:c.1880_1883dup MANE Select	NP_000052.1:p.Ile629TyrfsTer9
NM_001287344.2:c.1982_1985dup	NP_001274273.1:p.Ile663TyrfsTer9
NM_001287345.2:c.1352_1355dup	NP_001274274.1:p.Ile453TyrfsTer9