Canonical Allele Identifier: CA2580100132

Gene: BTK

Linked Data

• ClinVar Variation Id: 2443086
• ClinVar RCV Id: RCV003151478

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353273_101353284del , CM000685.2:g.101353273_101353284del	GRCh38
NC_000023.10:g.100608261_100608272del , CM000685.1:g.100608261_100608272del	GRCh37
NC_000023.9:g.100494917_100494928del	NCBI36
NG_009616.1:g.37944_37955del , LRG_128:g.37944_37955del
NG_011734.1:g.689_700del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3338_3349del
ENST00000488970.2:n.3977_3988del
ENST00000695614.1:c.1821_1832del	ENSP00000512053.1:p.Glu608_Ala611del
ENST00000695615.1:c.1821_1832del	ENSP00000512054.1:p.Glu608_Ala611del
ENST00000695616.1:c.*1666_*1677del	ENSP00000512055.1:n.*1666_*1677del
ENST00000695617.1:c.1818_1829del	ENSP00000512056.1:p.Glu607_Ala610del
ENST00000695618.1:c.*1570_*1581del	ENSP00000512058.1:n.*1570_*1581del
ENST00000695619.1:c.*1531_*1542del	ENSP00000512059.1:n.*1531_*1542del
ENST00000695620.1:c.*1747_*1758del	ENSP00000512060.1:n.*1747_*1758del
ENST00000695621.1:c.*246_*257del	ENSP00000512061.1:n.*246_*257del
ENST00000695622.1:c.1758_1769del	ENSP00000512062.1:p.Glu587_Ala590del
ENST00000695623.1:c.1815_1826del	ENSP00000512063.1:p.Glu606_Ala609del
ENST00000695624.1:n.1126_1137del
ENST00000695625.1:c.1821_1832del	ENSP00000512064.1:p.Glu608_Ala611del
ENST00000695626.1:c.576_587del	ENSP00000512065.1:n.576_587del
ENST00000695627.1:c.769_780del	ENSP00000512066.1:n.769_780del
ENST00000695628.1:c.380_391del	ENSP00000512067.1:n.380_391del
ENST00000695629.1:c.261_272del	ENSP00000512068.1:p.Glu88_Ala91del
ENST00000695630.1:c.548_559del
ENST00000695631.1:c.115-33_115-22del
ENST00000703407.1:c.1293_1304del	ENSP00000512057.1:p.Glu432_Ala435del
ENST00000308731.8:c.1821_1832del MANE Select	ENSP00000308176.8:p.Glu608_Ala611del
ENST00000308731.7:c.1821_1832del	ENSP00000308176.7:p.Glu608_Ala611del
ENST00000372880.5:c.1293_1304del	ENSP00000361971.1:p.Glu432_Ala435del
ENST00000470069.1:n.186_197del
ENST00000618050.4:c.1820_1831del	ENSP00000479125.1:n.1820_1831del
ENST00000621635.4:c.1923_1934del	ENSP00000483570.1:p.Glu642_Ala645del
NM_000061.2:c.1821_1832del , LRG_128t1:c.1821_1832del	NP_000052.1:p.Glu608_Ala611del
NM_001287344.1:c.1923_1934del	NP_001274273.1:p.Glu642_Ala645del
NM_001287345.1:c.1293_1304del	NP_001274274.1:p.Glu432_Ala435del
NM_000061.3:c.1821_1832del MANE Select	NP_000052.1:p.Glu608_Ala611del
NM_001287344.2:c.1923_1934del	NP_001274273.1:p.Glu642_Ala645del
NM_001287345.2:c.1293_1304del	NP_001274274.1:p.Glu432_Ala435del