Canonical Allele Identifier: CA1135843973

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101352899_101352900del , CM000685.2:g.101352899_101352900del	GRCh38
NC_000023.10:g.100607887_100607888del , CM000685.1:g.100607887_100607888del	GRCh37
NC_000023.9:g.100494543_100494544del	NCBI36
NG_009616.1:g.38325_38326del , LRG_128:g.38325_38326del
NG_011734.1:g.1070_1071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3425+294_3425+295del
ENST00000488970.2:n.4064+294_4064+295del
ENST00000695614.1:c.1908+294_1908+295del	ENSP00000512053.1:n.1908+294_1908+295del
ENST00000695615.1:c.1908+294_1908+295del	ENSP00000512054.1:n.1908+294_1908+295del
ENST00000695616.1:c.*1753+294_*1753+295del	ENSP00000512055.1:n.*1753+294_*1753+295del
ENST00000695617.1:c.1905+294_1905+295del	ENSP00000512056.1:n.1905+294_1905+295del
ENST00000695618.1:c.*1657+294_*1657+295del	ENSP00000512058.1:n.*1657+294_*1657+295del
ENST00000695619.1:c.*1618+294_*1618+295del	ENSP00000512059.1:n.*1618+294_*1618+295del
ENST00000695620.1:c.*1834+294_*1834+295del	ENSP00000512060.1:n.*1834+294_*1834+295del
ENST00000695621.1:c.*333+294_*333+295del	ENSP00000512061.1:n.*333+294_*333+295del
ENST00000695622.1:c.1845+294_1845+295del	ENSP00000512062.1:n.1845+294_1845+295del
ENST00000695623.1:c.1902+294_1902+295del	ENSP00000512063.1:n.1902+294_1902+295del
ENST00000695624.1:n.1213+294_1213+295del
ENST00000695625.1:c.1875+327_1875+328del	ENSP00000512064.1:n.1875+327_1875+328del
ENST00000695626.1:c.663+294_663+295del	ENSP00000512065.1:n.663+294_663+295del
ENST00000695627.1:c.856+294_856+295del	ENSP00000512066.1:n.856+294_856+295del
ENST00000695628.1:c.467+294_467+295del	ENSP00000512067.1:n.467+294_467+295del
ENST00000695629.1:c.348+294_348+295del	ENSP00000512068.1:n.348+294_348+295del
ENST00000695630.1:c.635+294_635+295del
ENST00000695631.1:c.169+294_169+295del
ENST00000703407.1:c.1380+294_1380+295del	ENSP00000512057.1:n.1380+294_1380+295del
ENST00000308731.8:c.1908+294_1908+295del MANE Select	ENSP00000308176.8:n.1908+294_1908+295del
ENST00000308731.7:c.1908+294_1908+295del	ENSP00000308176.7:n.1908+294_1908+295del
ENST00000372880.5:c.1380+294_1380+295del	ENSP00000361971.1:n.1380+294_1380+295del
ENST00000618050.4:c.1907+294_1907+295del	ENSP00000479125.1:n.1907+294_1907+295del
ENST00000621635.4:c.2010+294_2010+295del	ENSP00000483570.1:n.2010+294_2010+295del
NM_000061.2:c.1908+294_1908+295del , LRG_128t1:c.1908+294_1908+295del	NP_000052.1:n.1908+294_1908+295del
NM_001287344.1:c.2010+294_2010+295del	NP_001274273.1:n.2010+294_2010+295del
NM_001287345.1:c.1380+294_1380+295del	NP_001274274.1:n.1380+294_1380+295del
NM_000061.3:c.1908+294_1908+295del MANE Select	NP_000052.1:n.1908+294_1908+295del
NM_001287344.2:c.2010+294_2010+295del	NP_001274273.1:n.2010+294_2010+295del
NM_001287345.2:c.1380+294_1380+295del	NP_001274274.1:n.1380+294_1380+295del