Canonical Allele Identifier: CA1135843879

Gene: BTK

Linked Data

• dbSNP Id: rs1926334566
• gnomAD v3: X-101352833-A-AGGTTGCAGTGAGCCAAAATCGTGC
• gnomAD v4: X-101352833-A-AGGTTGCAGTGAGCCAAAATCGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101352834_101352857dup , CM000685.2:g.101352834_101352857dup	GRCh38
NC_000023.10:g.100607822_100607845dup , CM000685.1:g.100607822_100607845dup	GRCh37
NC_000023.9:g.100494478_100494501dup	NCBI36
NG_009616.1:g.38368_38391dup , LRG_128:g.38368_38391dup
NG_011734.1:g.1113_1136dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3425+337_3425+360dup
ENST00000488970.2:n.4064+337_4064+360dup
ENST00000695614.1:c.1908+337_1908+360dup	ENSP00000512053.1:n.1908+337_1908+360dup
ENST00000695615.1:c.1908+337_1908+360dup	ENSP00000512054.1:n.1908+337_1908+360dup
ENST00000695616.1:c.*1753+337_*1753+360dup	ENSP00000512055.1:n.*1753+337_*1753+360dup
ENST00000695617.1:c.1905+337_1905+360dup	ENSP00000512056.1:n.1905+337_1905+360dup
ENST00000695618.1:c.*1657+337_*1657+360dup	ENSP00000512058.1:n.*1657+337_*1657+360dup
ENST00000695619.1:c.*1618+337_*1618+360dup	ENSP00000512059.1:n.*1618+337_*1618+360dup
ENST00000695620.1:c.*1834+337_*1834+360dup	ENSP00000512060.1:n.*1834+337_*1834+360dup
ENST00000695621.1:c.*333+337_*333+360dup	ENSP00000512061.1:n.*333+337_*333+360dup
ENST00000695622.1:c.1845+337_1845+360dup	ENSP00000512062.1:n.1845+337_1845+360dup
ENST00000695623.1:c.1902+337_1902+360dup	ENSP00000512063.1:n.1902+337_1902+360dup
ENST00000695624.1:n.1213+337_1213+360dup
ENST00000695625.1:c.1875+370_1875+393dup	ENSP00000512064.1:n.1875+370_1875+393dup
ENST00000695626.1:c.663+337_663+360dup	ENSP00000512065.1:n.663+337_663+360dup
ENST00000695627.1:c.856+337_856+360dup	ENSP00000512066.1:n.856+337_856+360dup
ENST00000695628.1:c.467+337_467+360dup	ENSP00000512067.1:n.467+337_467+360dup
ENST00000695629.1:c.348+337_348+360dup	ENSP00000512068.1:n.348+337_348+360dup
ENST00000695630.1:c.635+337_635+360dup
ENST00000695631.1:c.169+337_169+360dup
ENST00000703407.1:c.1380+337_1380+360dup	ENSP00000512057.1:n.1380+337_1380+360dup
ENST00000308731.8:c.1908+337_1908+360dup MANE Select	ENSP00000308176.8:n.1908+337_1908+360dup
ENST00000308731.7:c.1908+337_1908+360dup	ENSP00000308176.7:n.1908+337_1908+360dup
ENST00000372880.5:c.1380+337_1380+360dup	ENSP00000361971.1:n.1380+337_1380+360dup
ENST00000618050.4:c.1907+337_1907+360dup	ENSP00000479125.1:n.1907+337_1907+360dup
ENST00000621635.4:c.2010+337_2010+360dup	ENSP00000483570.1:n.2010+337_2010+360dup
NM_000061.2:c.1908+337_1908+360dup , LRG_128t1:c.1908+337_1908+360dup	NP_000052.1:n.1908+337_1908+360dup
NM_001287344.1:c.2010+337_2010+360dup	NP_001274273.1:n.2010+337_2010+360dup
NM_001287345.1:c.1380+337_1380+360dup	NP_001274274.1:n.1380+337_1380+360dup
NM_000061.3:c.1908+337_1908+360dup MANE Select	NP_000052.1:n.1908+337_1908+360dup
NM_001287344.2:c.2010+337_2010+360dup	NP_001274273.1:n.2010+337_2010+360dup
NM_001287345.2:c.1380+337_1380+360dup	NP_001274274.1:n.1380+337_1380+360dup