Canonical Allele Identifier: CA2694294749

Gene: BTK

Linked Data

• gnomAD v4: X-101352899-C-CAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101352913_101352916dup , CM000685.2:g.101352913_101352916dup	GRCh38
NC_000023.10:g.100607901_100607904dup , CM000685.1:g.100607901_100607904dup	GRCh37
NC_000023.9:g.100494557_100494560dup	NCBI36
NG_009616.1:g.38322_38325dup , LRG_128:g.38322_38325dup
NG_011734.1:g.1067_1070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3425+291_3425+294dup
ENST00000488970.2:n.4064+291_4064+294dup
ENST00000695614.1:c.1908+291_1908+294dup	ENSP00000512053.1:n.1908+291_1908+294dup
ENST00000695615.1:c.1908+291_1908+294dup	ENSP00000512054.1:n.1908+291_1908+294dup
ENST00000695616.1:c.*1753+291_*1753+294dup	ENSP00000512055.1:n.*1753+291_*1753+294dup
ENST00000695617.1:c.1905+291_1905+294dup	ENSP00000512056.1:n.1905+291_1905+294dup
ENST00000695618.1:c.*1657+291_*1657+294dup	ENSP00000512058.1:n.*1657+291_*1657+294dup
ENST00000695619.1:c.*1618+291_*1618+294dup	ENSP00000512059.1:n.*1618+291_*1618+294dup
ENST00000695620.1:c.*1834+291_*1834+294dup	ENSP00000512060.1:n.*1834+291_*1834+294dup
ENST00000695621.1:c.*333+291_*333+294dup	ENSP00000512061.1:n.*333+291_*333+294dup
ENST00000695622.1:c.1845+291_1845+294dup	ENSP00000512062.1:n.1845+291_1845+294dup
ENST00000695623.1:c.1902+291_1902+294dup	ENSP00000512063.1:n.1902+291_1902+294dup
ENST00000695624.1:n.1213+291_1213+294dup
ENST00000695625.1:c.1875+324_1875+327dup	ENSP00000512064.1:n.1875+324_1875+327dup
ENST00000695626.1:c.663+291_663+294dup	ENSP00000512065.1:n.663+291_663+294dup
ENST00000695627.1:c.856+291_856+294dup	ENSP00000512066.1:n.856+291_856+294dup
ENST00000695628.1:c.467+291_467+294dup	ENSP00000512067.1:n.467+291_467+294dup
ENST00000695629.1:c.348+291_348+294dup	ENSP00000512068.1:n.348+291_348+294dup
ENST00000695630.1:c.635+291_635+294dup
ENST00000695631.1:c.169+291_169+294dup
ENST00000703407.1:c.1380+291_1380+294dup	ENSP00000512057.1:n.1380+291_1380+294dup
ENST00000308731.8:c.1908+291_1908+294dup MANE Select	ENSP00000308176.8:n.1908+291_1908+294dup
ENST00000308731.7:c.1908+291_1908+294dup	ENSP00000308176.7:n.1908+291_1908+294dup
ENST00000372880.5:c.1380+291_1380+294dup	ENSP00000361971.1:n.1380+291_1380+294dup
ENST00000618050.4:c.1907+291_1907+294dup	ENSP00000479125.1:n.1907+291_1907+294dup
ENST00000621635.4:c.2010+291_2010+294dup	ENSP00000483570.1:n.2010+291_2010+294dup
NM_000061.2:c.1908+291_1908+294dup , LRG_128t1:c.1908+291_1908+294dup	NP_000052.1:n.1908+291_1908+294dup
NM_001287344.1:c.2010+291_2010+294dup	NP_001274273.1:n.2010+291_2010+294dup
NM_001287345.1:c.1380+291_1380+294dup	NP_001274274.1:n.1380+291_1380+294dup
NM_000061.3:c.1908+291_1908+294dup MANE Select	NP_000052.1:n.1908+291_1908+294dup
NM_001287344.2:c.2010+291_2010+294dup	NP_001274273.1:n.2010+291_2010+294dup
NM_001287345.2:c.1380+291_1380+294dup	NP_001274274.1:n.1380+291_1380+294dup