Canonical Allele Identifier: CA2695235333

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353208del , CM000685.2:g.101353208del	GRCh38
NC_000023.10:g.100608196del , CM000685.1:g.100608196del	GRCh37
NC_000023.9:g.100494852del	NCBI36
NG_009616.1:g.38017del , LRG_128:g.38017del
NG_011734.1:g.762del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3411del
ENST00000488970.2:n.4050del
ENST00000695614.1:c.1894del	ENSP00000512053.1:p.Ser632ValfsTer17
ENST00000695615.1:c.1894del	ENSP00000512054.1:p.Ser632ValfsTer17
ENST00000695616.1:c.*1739del	ENSP00000512055.1:n.*1739del
ENST00000695617.1:c.1891del	ENSP00000512056.1:p.Ser631ValfsTer17
ENST00000695618.1:c.*1643del	ENSP00000512058.1:n.*1643del
ENST00000695619.1:c.*1604del	ENSP00000512059.1:n.*1604del
ENST00000695620.1:c.*1820del	ENSP00000512060.1:n.*1820del
ENST00000695621.1:c.*319del	ENSP00000512061.1:n.*319del
ENST00000695622.1:c.1831del	ENSP00000512062.1:p.Ser611ValfsTer17
ENST00000695623.1:c.1888del	ENSP00000512063.1:p.Ser630ValfsTer17
ENST00000695624.1:n.1199del
ENST00000695625.1:c.1875+19del	ENSP00000512064.1:n.1875+19del
ENST00000695626.1:c.649del	ENSP00000512065.1:n.649del
ENST00000695627.1:c.842del	ENSP00000512066.1:n.842del
ENST00000695628.1:c.453del	ENSP00000512067.1:n.453del
ENST00000695629.1:c.334del	ENSP00000512068.1:p.Ser112ValfsTer17
ENST00000695630.1:c.621del
ENST00000695631.1:c.155del
ENST00000703407.1:c.1366del	ENSP00000512057.1:p.Ser456ValfsTer17
ENST00000308731.8:c.1894del MANE Select	ENSP00000308176.8:p.Ser632ValfsTer17
ENST00000308731.7:c.1894del	ENSP00000308176.7:p.Ser632ValfsTer17
ENST00000372880.5:c.1366del	ENSP00000361971.1:p.Ser456ValfsTer17
ENST00000470069.1:n.259del
ENST00000618050.4:c.1893del	ENSP00000479125.1:n.1893del
ENST00000621635.4:c.1996del	ENSP00000483570.1:p.Ser666ValfsTer17
NM_000061.2:c.1894del , LRG_128t1:c.1894del	NP_000052.1:p.Ser632ValfsTer17
NM_001287344.1:c.1996del	NP_001274273.1:p.Ser666ValfsTer17
NM_001287345.1:c.1366del	NP_001274274.1:p.Ser456ValfsTer17
NM_000061.3:c.1894del MANE Select	NP_000052.1:p.Ser632ValfsTer17
NM_001287344.2:c.1996del	NP_001274273.1:p.Ser666ValfsTer17
NM_001287345.2:c.1366del	NP_001274274.1:p.Ser456ValfsTer17