Canonical Allele Identifier: CA2695235348

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353289_101353294dup , CM000685.2:g.101353289_101353294dup	GRCh38
NC_000023.10:g.100608277_100608282dup , CM000685.1:g.100608277_100608282dup	GRCh37
NC_000023.9:g.100494933_100494938dup	NCBI36
NG_009616.1:g.37932_37937dup , LRG_128:g.37932_37937dup
NG_011734.1:g.677_682dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3326_3331dup
ENST00000488970.2:n.3965_3970dup
ENST00000695614.1:c.1809_1814dup	ENSP00000512053.1:p.Ser604_Glu605insAspSer
ENST00000695615.1:c.1809_1814dup	ENSP00000512054.1:p.Ser604_Glu605insAspSer
ENST00000695616.1:c.*1654_*1659dup	ENSP00000512055.1:n.*1654_*1659dup
ENST00000695617.1:c.1806_1811dup	ENSP00000512056.1:p.Ser603_Glu604insAspSer
ENST00000695618.1:c.*1558_*1563dup	ENSP00000512058.1:n.*1558_*1563dup
ENST00000695619.1:c.*1519_*1524dup	ENSP00000512059.1:n.*1519_*1524dup
ENST00000695620.1:c.*1735_*1740dup	ENSP00000512060.1:n.*1735_*1740dup
ENST00000695621.1:c.*234_*239dup	ENSP00000512061.1:n.*234_*239dup
ENST00000695622.1:c.1746_1751dup	ENSP00000512062.1:p.Ser583_Glu584insAspSer
ENST00000695623.1:c.1803_1808dup	ENSP00000512063.1:p.Ser602_Glu603insAspSer
ENST00000695624.1:n.1114_1119dup
ENST00000695625.1:c.1809_1814dup	ENSP00000512064.1:p.Ser604_Glu605insAspSer
ENST00000695626.1:c.564_569dup	ENSP00000512065.1:n.564_569dup
ENST00000695627.1:c.757_762dup	ENSP00000512066.1:n.757_762dup
ENST00000695628.1:c.368_373dup	ENSP00000512067.1:n.368_373dup
ENST00000695629.1:c.249_254dup	ENSP00000512068.1:p.Ser84_Glu85insAspSer
ENST00000695630.1:c.536_541dup
ENST00000695631.1:c.115-45_115-40dup
ENST00000703407.1:c.1281_1286dup	ENSP00000512057.1:p.Ser428_Glu429insAspSer
ENST00000308731.8:c.1809_1814dup MANE Select	ENSP00000308176.8:p.Ser604_Glu605insAspSer
ENST00000308731.7:c.1809_1814dup	ENSP00000308176.7:p.Ser604_Glu605insAspSer
ENST00000372880.5:c.1281_1286dup	ENSP00000361971.1:p.Ser428_Glu429insAspSer
ENST00000470069.1:n.174_179dup
ENST00000618050.4:c.1808_1813dup	ENSP00000479125.1:n.1808_1813dup
ENST00000621635.4:c.1911_1916dup	ENSP00000483570.1:p.Ser638_Glu639insAspSer
NM_000061.2:c.1809_1814dup , LRG_128t1:c.1809_1814dup	NP_000052.1:p.Ser604_Glu605insAspSer
NM_001287344.1:c.1911_1916dup	NP_001274273.1:p.Ser638_Glu639insAspSer
NM_001287345.1:c.1281_1286dup	NP_001274274.1:p.Ser428_Glu429insAspSer
NM_000061.3:c.1809_1814dup MANE Select	NP_000052.1:p.Ser604_Glu605insAspSer
NM_001287344.2:c.1911_1916dup	NP_001274273.1:p.Ser638_Glu639insAspSer
NM_001287345.2:c.1281_1286dup	NP_001274274.1:p.Ser428_Glu429insAspSer