Canonical Allele Identifier: CA2695235337

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353219del , CM000685.2:g.101353219del	GRCh38
NC_000023.10:g.100608207del , CM000685.1:g.100608207del	GRCh37
NC_000023.9:g.100494863del	NCBI36
NG_009616.1:g.38007del , LRG_128:g.38007del
NG_011734.1:g.752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3401del
ENST00000488970.2:n.4040del
ENST00000695614.1:c.1884del	ENSP00000512053.1:p.Ile629SerfsTer20
ENST00000695615.1:c.1884del	ENSP00000512054.1:p.Ile629SerfsTer20
ENST00000695616.1:c.*1729del	ENSP00000512055.1:n.*1729del
ENST00000695617.1:c.1881del	ENSP00000512056.1:p.Ile628SerfsTer20
ENST00000695618.1:c.*1633del	ENSP00000512058.1:n.*1633del
ENST00000695619.1:c.*1594del	ENSP00000512059.1:n.*1594del
ENST00000695620.1:c.*1810del	ENSP00000512060.1:n.*1810del
ENST00000695621.1:c.*309del	ENSP00000512061.1:n.*309del
ENST00000695622.1:c.1821del	ENSP00000512062.1:p.Ile608SerfsTer20
ENST00000695623.1:c.1878del	ENSP00000512063.1:p.Ile627SerfsTer20
ENST00000695624.1:n.1189del
ENST00000695625.1:c.1875+9del	ENSP00000512064.1:n.1875+9del
ENST00000695626.1:c.639del	ENSP00000512065.1:n.639del
ENST00000695627.1:c.832del	ENSP00000512066.1:n.832del
ENST00000695628.1:c.443del	ENSP00000512067.1:n.443del
ENST00000695629.1:c.324del	ENSP00000512068.1:p.Ile109SerfsTer20
ENST00000695630.1:c.611del
ENST00000695631.1:c.145del
ENST00000703407.1:c.1356del	ENSP00000512057.1:p.Ile453SerfsTer20
ENST00000308731.8:c.1884del MANE Select	ENSP00000308176.8:p.Ile629SerfsTer20
ENST00000308731.7:c.1884del	ENSP00000308176.7:p.Ile629SerfsTer20
ENST00000372880.5:c.1356del	ENSP00000361971.1:p.Ile453SerfsTer20
ENST00000470069.1:n.249del
ENST00000618050.4:c.1883del	ENSP00000479125.1:n.1883del
ENST00000621635.4:c.1986del	ENSP00000483570.1:p.Ile663SerfsTer20
NM_000061.2:c.1884del , LRG_128t1:c.1884del	NP_000052.1:p.Ile629SerfsTer20
NM_001287344.1:c.1986del	NP_001274273.1:p.Ile663SerfsTer20
NM_001287345.1:c.1356del	NP_001274274.1:p.Ile453SerfsTer20
NM_000061.3:c.1884del MANE Select	NP_000052.1:p.Ile629SerfsTer20
NM_001287344.2:c.1986del	NP_001274273.1:p.Ile663SerfsTer20
NM_001287345.2:c.1356del	NP_001274274.1:p.Ile453SerfsTer20