Canonical Allele Identifier: CA2695235336

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353216_101353218del , CM000685.2:g.101353216_101353218del	GRCh38
NC_000023.10:g.100608204_100608206del , CM000685.1:g.100608204_100608206del	GRCh37
NC_000023.9:g.100494860_100494862del	NCBI36
NG_009616.1:g.38010_38012del , LRG_128:g.38010_38012del
NG_011734.1:g.755_757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3404_3406del
ENST00000488970.2:n.4043_4045del
ENST00000695614.1:c.1887_1889del	ENSP00000512053.1:p.Ile629del
ENST00000695615.1:c.1887_1889del	ENSP00000512054.1:p.Ile629del
ENST00000695616.1:c.*1732_*1734del	ENSP00000512055.1:n.*1732_*1734del
ENST00000695617.1:c.1884_1886del	ENSP00000512056.1:p.Ile628del
ENST00000695618.1:c.*1636_*1638del	ENSP00000512058.1:n.*1636_*1638del
ENST00000695619.1:c.*1597_*1599del	ENSP00000512059.1:n.*1597_*1599del
ENST00000695620.1:c.*1813_*1815del	ENSP00000512060.1:n.*1813_*1815del
ENST00000695621.1:c.*312_*314del	ENSP00000512061.1:n.*312_*314del
ENST00000695622.1:c.1824_1826del	ENSP00000512062.1:p.Ile608del
ENST00000695623.1:c.1881_1883del	ENSP00000512063.1:p.Ile627del
ENST00000695624.1:n.1192_1194del
ENST00000695625.1:c.1875+12_1875+14del	ENSP00000512064.1:n.1875+12_1875+14del
ENST00000695626.1:c.642_644del	ENSP00000512065.1:n.642_644del
ENST00000695627.1:c.835_837del	ENSP00000512066.1:n.835_837del
ENST00000695628.1:c.446_448del	ENSP00000512067.1:n.446_448del
ENST00000695629.1:c.327_329del	ENSP00000512068.1:p.Ile109del
ENST00000695630.1:c.614_616del
ENST00000695631.1:c.148_150del
ENST00000703407.1:c.1359_1361del	ENSP00000512057.1:p.Ile453del
ENST00000308731.8:c.1887_1889del MANE Select	ENSP00000308176.8:p.Ile629del
ENST00000308731.7:c.1887_1889del	ENSP00000308176.7:p.Ile629del
ENST00000372880.5:c.1359_1361del	ENSP00000361971.1:p.Ile453del
ENST00000470069.1:n.252_254del
ENST00000618050.4:c.1886_1888del	ENSP00000479125.1:n.1886_1888del
ENST00000621635.4:c.1989_1991del	ENSP00000483570.1:p.Ile663del
NM_000061.2:c.1887_1889del , LRG_128t1:c.1887_1889del	NP_000052.1:p.Ile629del
NM_001287344.1:c.1989_1991del	NP_001274273.1:p.Ile663del
NM_001287345.1:c.1359_1361del	NP_001274274.1:p.Ile453del
NM_000061.3:c.1887_1889del MANE Select	NP_000052.1:p.Ile629del
NM_001287344.2:c.1989_1991del	NP_001274273.1:p.Ile663del
NM_001287345.2:c.1359_1361del	NP_001274274.1:p.Ile453del