Canonical Allele Identifier: CA2695235342

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353252_101353254del , CM000685.2:g.101353252_101353254del	GRCh38
NC_000023.10:g.100608240_100608242del , CM000685.1:g.100608240_100608242del	GRCh37
NC_000023.9:g.100494896_100494898del	NCBI36
NG_009616.1:g.37972_37974del , LRG_128:g.37972_37974del
NG_011734.1:g.717_719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3366_3368del
ENST00000488970.2:n.4005_4007del
ENST00000695614.1:c.1849_1851del	ENSP00000512053.1:p.Tyr617del
ENST00000695615.1:c.1849_1851del	ENSP00000512054.1:p.Tyr617del
ENST00000695616.1:c.*1694_*1696del	ENSP00000512055.1:n.*1694_*1696del
ENST00000695617.1:c.1846_1848del	ENSP00000512056.1:p.Tyr616del
ENST00000695618.1:c.*1598_*1600del	ENSP00000512058.1:n.*1598_*1600del
ENST00000695619.1:c.*1559_*1561del	ENSP00000512059.1:n.*1559_*1561del
ENST00000695620.1:c.*1775_*1777del	ENSP00000512060.1:n.*1775_*1777del
ENST00000695621.1:c.*274_*276del	ENSP00000512061.1:n.*274_*276del
ENST00000695622.1:c.1786_1788del	ENSP00000512062.1:p.Tyr596del
ENST00000695623.1:c.1843_1845del	ENSP00000512063.1:p.Tyr615del
ENST00000695624.1:n.1154_1156del
ENST00000695625.1:c.1849_1851del	ENSP00000512064.1:p.Tyr617del
ENST00000695626.1:c.604_606del	ENSP00000512065.1:n.604_606del
ENST00000695627.1:c.797_799del	ENSP00000512066.1:n.797_799del
ENST00000695628.1:c.408_410del	ENSP00000512067.1:n.408_410del
ENST00000695629.1:c.289_291del	ENSP00000512068.1:p.Tyr97del
ENST00000695630.1:c.576_578del
ENST00000695631.1:c.115-5_115-3del
ENST00000703407.1:c.1321_1323del	ENSP00000512057.1:p.Tyr441del
ENST00000308731.8:c.1849_1851del MANE Select	ENSP00000308176.8:p.Tyr617del
ENST00000308731.7:c.1849_1851del	ENSP00000308176.7:p.Tyr617del
ENST00000372880.5:c.1321_1323del	ENSP00000361971.1:p.Tyr441del
ENST00000470069.1:n.214_216del
ENST00000618050.4:c.1848_1850del	ENSP00000479125.1:n.1848_1850del
ENST00000621635.4:c.1951_1953del	ENSP00000483570.1:p.Tyr651del
NM_000061.2:c.1849_1851del , LRG_128t1:c.1849_1851del	NP_000052.1:p.Tyr617del
NM_001287344.1:c.1951_1953del	NP_001274273.1:p.Tyr651del
NM_001287345.1:c.1321_1323del	NP_001274274.1:p.Tyr441del
NM_000061.3:c.1849_1851del MANE Select	NP_000052.1:p.Tyr617del
NM_001287344.2:c.1951_1953del	NP_001274273.1:p.Tyr651del
NM_001287345.2:c.1321_1323del	NP_001274274.1:p.Tyr441del