Canonical Allele Identifier: CA2695235351

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353310_101353311del , CM000685.2:g.101353310_101353311del	GRCh38
NC_000023.10:g.100608298_100608299del , CM000685.1:g.100608298_100608299del	GRCh37
NC_000023.9:g.100494954_100494955del	NCBI36
NG_009616.1:g.37916_37917del , LRG_128:g.37916_37917del
NG_011734.1:g.661_662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3310_3311del
ENST00000488970.2:n.3949_3950del
ENST00000695614.1:c.1793_1794del	ENSP00000512053.1:p.Tyr598Ter
ENST00000695615.1:c.1793_1794del	ENSP00000512054.1:p.Tyr598Ter
ENST00000695616.1:c.*1638_*1639del	ENSP00000512055.1:n.*1638_*1639del
ENST00000695617.1:c.1790_1791del	ENSP00000512056.1:p.Tyr597Ter
ENST00000695618.1:c.*1542_*1543del	ENSP00000512058.1:n.*1542_*1543del
ENST00000695619.1:c.*1503_*1504del	ENSP00000512059.1:n.*1503_*1504del
ENST00000695620.1:c.*1719_*1720del	ENSP00000512060.1:n.*1719_*1720del
ENST00000695621.1:c.*218_*219del	ENSP00000512061.1:n.*218_*219del
ENST00000695622.1:c.1730_1731del	ENSP00000512062.1:p.Tyr577Ter
ENST00000695623.1:c.1787_1788del	ENSP00000512063.1:p.Tyr596Ter
ENST00000695624.1:n.1098_1099del
ENST00000695625.1:c.1793_1794del	ENSP00000512064.1:p.Tyr598Ter
ENST00000695626.1:c.548_549del	ENSP00000512065.1:n.548_549del
ENST00000695627.1:c.741_742del	ENSP00000512066.1:n.741_742del
ENST00000695628.1:c.352_353del	ENSP00000512067.1:n.352_353del
ENST00000695629.1:c.233_234del	ENSP00000512068.1:p.Tyr78Ter
ENST00000695630.1:c.520_521del
ENST00000695631.1:c.115-61_115-60del
ENST00000703407.1:c.1265_1266del	ENSP00000512057.1:p.Tyr422Ter
ENST00000308731.8:c.1793_1794del MANE Select	ENSP00000308176.8:p.Tyr598Ter
ENST00000308731.7:c.1793_1794del	ENSP00000308176.7:p.Tyr598Ter
ENST00000372880.5:c.1265_1266del	ENSP00000361971.1:p.Tyr422Ter
ENST00000470069.1:n.158_159del
ENST00000618050.4:c.1792_1793del	ENSP00000479125.1:n.1792_1793del
ENST00000621635.4:c.1895_1896del	ENSP00000483570.1:p.Tyr632Ter
NM_000061.2:c.1793_1794del , LRG_128t1:c.1793_1794del	NP_000052.1:p.Tyr598Ter
NM_001287344.1:c.1895_1896del	NP_001274273.1:p.Tyr632Ter
NM_001287345.1:c.1265_1266del	NP_001274274.1:p.Tyr422Ter
NM_000061.3:c.1793_1794del MANE Select	NP_000052.1:p.Tyr598Ter
NM_001287344.2:c.1895_1896del	NP_001274273.1:p.Tyr632Ter
NM_001287345.2:c.1265_1266del	NP_001274274.1:p.Tyr422Ter