Canonical Allele Identifier: CA2695235334

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353209_101353210del , CM000685.2:g.101353209_101353210del	GRCh38
NC_000023.10:g.100608197_100608198del , CM000685.1:g.100608197_100608198del	GRCh37
NC_000023.9:g.100494853_100494854del	NCBI36
NG_009616.1:g.38016_38017del , LRG_128:g.38016_38017del
NG_011734.1:g.761_762del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3410_3411del
ENST00000488970.2:n.4049_4050del
ENST00000695614.1:c.1893_1894del	ENSP00000512053.1:p.Tyr631Ter
ENST00000695615.1:c.1893_1894del	ENSP00000512054.1:p.Tyr631Ter
ENST00000695616.1:c.*1738_*1739del	ENSP00000512055.1:n.*1738_*1739del
ENST00000695617.1:c.1890_1891del	ENSP00000512056.1:p.Tyr630Ter
ENST00000695618.1:c.*1642_*1643del	ENSP00000512058.1:n.*1642_*1643del
ENST00000695619.1:c.*1603_*1604del	ENSP00000512059.1:n.*1603_*1604del
ENST00000695620.1:c.*1819_*1820del	ENSP00000512060.1:n.*1819_*1820del
ENST00000695621.1:c.*318_*319del	ENSP00000512061.1:n.*318_*319del
ENST00000695622.1:c.1830_1831del	ENSP00000512062.1:p.Tyr610Ter
ENST00000695623.1:c.1887_1888del	ENSP00000512063.1:p.Tyr629Ter
ENST00000695624.1:n.1198_1199del
ENST00000695625.1:c.1875+18_1875+19del	ENSP00000512064.1:n.1875+18_1875+19del
ENST00000695626.1:c.648_649del	ENSP00000512065.1:n.648_649del
ENST00000695627.1:c.841_842del	ENSP00000512066.1:n.841_842del
ENST00000695628.1:c.452_453del	ENSP00000512067.1:n.452_453del
ENST00000695629.1:c.333_334del	ENSP00000512068.1:p.Tyr111Ter
ENST00000695630.1:c.620_621del
ENST00000695631.1:c.154_155del
ENST00000703407.1:c.1365_1366del	ENSP00000512057.1:p.Tyr455Ter
ENST00000308731.8:c.1893_1894del MANE Select	ENSP00000308176.8:p.Tyr631Ter
ENST00000308731.7:c.1893_1894del	ENSP00000308176.7:p.Tyr631Ter
ENST00000372880.5:c.1365_1366del	ENSP00000361971.1:p.Tyr455Ter
ENST00000470069.1:n.258_259del
ENST00000618050.4:c.1892_1893del	ENSP00000479125.1:n.1892_1893del
ENST00000621635.4:c.1995_1996del	ENSP00000483570.1:p.Tyr665Ter
NM_000061.2:c.1893_1894del , LRG_128t1:c.1893_1894del	NP_000052.1:p.Tyr631Ter
NM_001287344.1:c.1995_1996del	NP_001274273.1:p.Tyr665Ter
NM_001287345.1:c.1365_1366del	NP_001274274.1:p.Tyr455Ter
NM_000061.3:c.1893_1894del MANE Select	NP_000052.1:p.Tyr631Ter
NM_001287344.2:c.1995_1996del	NP_001274273.1:p.Tyr665Ter
NM_001287345.2:c.1365_1366del	NP_001274274.1:p.Tyr455Ter