Canonical Allele Identifier: CA2695235331

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353202_101353217delinsGCAA , CM000685.2:g.101353202_101353217delinsGCAA	GRCh38
NC_000023.10:g.100608190_100608205delinsGCAA , CM000685.1:g.100608190_100608205delinsGCAA	GRCh37
NC_000023.9:g.100494846_100494861delinsGCAA	NCBI36
NG_009616.1:g.38008_38023delinsTTGC , LRG_128:g.38008_38023delinsTTGC
NG_011734.1:g.753_768delinsTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3402_3417delinsTTGC
ENST00000488970.2:n.4041_4056delinsTTGC
ENST00000695614.1:c.1885_1900delinsTTGC	ENSP00000512053.1:p.Ile629_Trp634delinsLeuArg
ENST00000695615.1:c.1885_1900delinsTTGC	ENSP00000512054.1:p.Ile629_Trp634delinsLeuArg
ENST00000695616.1:c.*1730_*1745delinsTTGC	ENSP00000512055.1:n.*1730_*1745delinsTTGC
ENST00000695617.1:c.1882_1897delinsTTGC	ENSP00000512056.1:p.Ile628_Trp633delinsLeuArg
ENST00000695618.1:c.*1634_*1649delinsTTGC	ENSP00000512058.1:n.*1634_*1649delinsTTGC
ENST00000695619.1:c.*1595_*1610delinsTTGC	ENSP00000512059.1:n.*1595_*1610delinsTTGC
ENST00000695620.1:c.*1811_*1826delinsTTGC	ENSP00000512060.1:n.*1811_*1826delinsTTGC
ENST00000695621.1:c.*310_*325delinsTTGC	ENSP00000512061.1:n.*310_*325delinsTTGC
ENST00000695622.1:c.1822_1837delinsTTGC	ENSP00000512062.1:p.Ile608_Trp613delinsLeuArg
ENST00000695623.1:c.1879_1894delinsTTGC	ENSP00000512063.1:p.Ile627_Trp632delinsLeuArg
ENST00000695624.1:n.1190_1205delinsTTGC
ENST00000695625.1:c.1875+10_1875+25delinsTTGC	ENSP00000512064.1:n.1875+10_1875+25delinsTTGC
ENST00000695626.1:c.640_655delinsTTGC	ENSP00000512065.1:n.640_655delinsTTGC
ENST00000695627.1:c.833_848delinsTTGC	ENSP00000512066.1:n.833_848delinsTTGC
ENST00000695628.1:c.444_459delinsTTGC	ENSP00000512067.1:n.444_459delinsTTGC
ENST00000695629.1:c.325_340delinsTTGC	ENSP00000512068.1:p.Ile109_Trp114delinsLeuArg
ENST00000695630.1:c.612_627delinsTTGC
ENST00000695631.1:c.146_161delinsTTGC
ENST00000703407.1:c.1357_1372delinsTTGC	ENSP00000512057.1:p.Ile453_Trp458delinsLeuArg
ENST00000308731.8:c.1885_1900delinsTTGC MANE Select	ENSP00000308176.8:p.Ile629_Trp634delinsLeuArg
ENST00000308731.7:c.1885_1900delinsTTGC	ENSP00000308176.7:p.Ile629_Trp634delinsLeuArg
ENST00000372880.5:c.1357_1372delinsTTGC	ENSP00000361971.1:p.Ile453_Trp458delinsLeuArg
ENST00000470069.1:n.250_265delinsTTGC
ENST00000618050.4:c.1884_1899delinsTTGC	ENSP00000479125.1:n.1884_1899delinsTTGC
ENST00000621635.4:c.1987_2002delinsTTGC	ENSP00000483570.1:p.Ile663_Trp668delinsLeuArg
NM_000061.2:c.1885_1900delinsTTGC , LRG_128t1:c.1885_1900delinsTTGC	NP_000052.1:p.Ile629_Trp634delinsLeuArg
NM_001287344.1:c.1987_2002delinsTTGC	NP_001274273.1:p.Ile663_Trp668delinsLeuArg
NM_001287345.1:c.1357_1372delinsTTGC	NP_001274274.1:p.Ile453_Trp458delinsLeuArg
NM_000061.3:c.1885_1900delinsTTGC MANE Select	NP_000052.1:p.Ile629_Trp634delinsLeuArg
NM_001287344.2:c.1987_2002delinsTTGC	NP_001274273.1:p.Ile663_Trp668delinsLeuArg
NM_001287345.2:c.1357_1372delinsTTGC	NP_001274274.1:p.Ile453_Trp458delinsLeuArg