Canonical Allele Identifier: CA2695235399

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101354692_101354693insCTGTAGT , CM000685.2:g.101354692_101354693insCTGTAGT	GRCh38
NC_000023.10:g.100609680_100609681insCTGTAGT , CM000685.1:g.100609680_100609681insCTGTAGT	GRCh37
NC_000023.9:g.100496336_100496337insCTGTAGT	NCBI36
NG_009616.1:g.36533_36534insCTACAGA , LRG_128:g.36533_36534insCTACAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3086_3087insCTACAGA
ENST00000488970.2:n.3084_3085insCTACAGA
ENST00000695614.1:c.1569_1570insCTACAGA	ENSP00000512053.1:p.Ala524LeufsTer15
ENST00000695615.1:c.1569_1570insCTACAGA	ENSP00000512054.1:p.Ala524LeufsTer15
ENST00000695616.1:c.*1414_*1415insCTACAGA	ENSP00000512055.1:n.*1414_*1415insCTACAGA
ENST00000695617.1:c.1566_1567insCTACAGA	ENSP00000512056.1:p.Ala523LeufsTer15
ENST00000695618.1:c.*1318_*1319insCTACAGA	ENSP00000512058.1:n.*1318_*1319insCTACAGA
ENST00000695619.1:c.*1279_*1280insCTACAGA	ENSP00000512059.1:n.*1279_*1280insCTACAGA
ENST00000695620.1:c.*1495_*1496insCTACAGA	ENSP00000512060.1:n.*1495_*1496insCTACAGA
ENST00000695621.1:c.1569_1570insCTACAGA	ENSP00000512061.1:p.Ala524LeufsTer15
ENST00000695622.1:c.1506_1507insCTACAGA	ENSP00000512062.1:p.Ala503LeufsTer15
ENST00000695623.1:c.1563_1564insCTACAGA	ENSP00000512063.1:p.Ala522LeufsTer15
ENST00000695624.1:n.874_875insCTACAGA
ENST00000695625.1:c.1569_1570insCTACAGA	ENSP00000512064.1:p.Ala524LeufsTer15
ENST00000695626.1:c.324_325insCTACAGA	ENSP00000512065.1:n.324_325insCTACAGA
ENST00000695627.1:c.580-704_580-703insCTACAGA	ENSP00000512066.1:n.580-704_580-703insCTACAGA
ENST00000695628.1:c.191-704_191-703insCTACAGA	ENSP00000512067.1:n.191-704_191-703insCTACAGA
ENST00000695629.1:c.191-1341_191-1340insCTACAGA	ENSP00000512068.1:n.191-1341_191-1340insCTACAGA
ENST00000695630.1:c.359-704_359-703insCTACAGA
ENST00000695631.1:c.115-1444_115-1443insCTACAGA
ENST00000695632.1:n.369_370insCTACAGA
ENST00000703407.1:c.1041_1042insCTACAGA	ENSP00000512057.1:p.Ala348LeufsTer15
ENST00000308731.8:c.1569_1570insCTACAGA MANE Select	ENSP00000308176.8:p.Ala524LeufsTer15
ENST00000308731.7:c.1569_1570insCTACAGA	ENSP00000308176.7:p.Ala524LeufsTer15
ENST00000372880.5:c.1041_1042insCTACAGA	ENSP00000361971.1:p.Ala348LeufsTer15
ENST00000618050.4:c.1569_1570insCTACAGA	ENSP00000479125.1:p.Ala524LeufsTer15
ENST00000621635.4:c.1671_1672insCTACAGA	ENSP00000483570.1:p.Ala558LeufsTer15
NM_000061.2:c.1569_1570insCTACAGA , LRG_128t1:c.1569_1570insCTACAGA	NP_000052.1:p.Ala524LeufsTer15
NM_001287344.1:c.1671_1672insCTACAGA	NP_001274273.1:p.Ala558LeufsTer15
NM_001287345.1:c.1041_1042insCTACAGA	NP_001274274.1:p.Ala348LeufsTer15
NM_000061.3:c.1569_1570insCTACAGA MANE Select	NP_000052.1:p.Ala524LeufsTer15
NM_001287344.2:c.1671_1672insCTACAGA	NP_001274273.1:p.Ala558LeufsTer15
NM_001287345.2:c.1041_1042insCTACAGA	NP_001274274.1:p.Ala348LeufsTer15