Canonical Allele Identifier: CA2695235330

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353198del , CM000685.2:g.101353198del	GRCh38
NC_000023.10:g.100608186del , CM000685.1:g.100608186del	GRCh37
NC_000023.9:g.100494842del	NCBI36
NG_009616.1:g.38027del , LRG_128:g.38027del
NG_011734.1:g.772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3421del
ENST00000488970.2:n.4060del
ENST00000695614.1:c.1904del	ENSP00000512053.1:p.His635LeufsTer14
ENST00000695615.1:c.1904del	ENSP00000512054.1:p.His635LeufsTer14
ENST00000695616.1:c.*1749del	ENSP00000512055.1:n.*1749del
ENST00000695617.1:c.1901del	ENSP00000512056.1:p.His634LeufsTer14
ENST00000695618.1:c.*1653del	ENSP00000512058.1:n.*1653del
ENST00000695619.1:c.*1614del	ENSP00000512059.1:n.*1614del
ENST00000695620.1:c.*1830del	ENSP00000512060.1:n.*1830del
ENST00000695621.1:c.*329del	ENSP00000512061.1:n.*329del
ENST00000695622.1:c.1841del	ENSP00000512062.1:p.His614LeufsTer14
ENST00000695623.1:c.1898del	ENSP00000512063.1:p.His633LeufsTer14
ENST00000695624.1:n.1209del
ENST00000695625.1:c.1875+29del	ENSP00000512064.1:n.1875+29del
ENST00000695626.1:c.659del	ENSP00000512065.1:n.659del
ENST00000695627.1:c.852del	ENSP00000512066.1:n.852del
ENST00000695628.1:c.463del	ENSP00000512067.1:n.463del
ENST00000695629.1:c.344del	ENSP00000512068.1:p.His115LeufsTer14
ENST00000695630.1:c.631del
ENST00000695631.1:c.165del
ENST00000703407.1:c.1376del	ENSP00000512057.1:p.His459LeufsTer14
ENST00000308731.8:c.1904del MANE Select	ENSP00000308176.8:p.His635LeufsTer14
ENST00000308731.7:c.1904del	ENSP00000308176.7:p.His635LeufsTer14
ENST00000372880.5:c.1376del	ENSP00000361971.1:p.His459LeufsTer14
ENST00000470069.1:n.269del
ENST00000618050.4:c.1903del	ENSP00000479125.1:n.1903del
ENST00000621635.4:c.2006del	ENSP00000483570.1:p.His669LeufsTer14
NM_000061.2:c.1904del , LRG_128t1:c.1904del	NP_000052.1:p.His635LeufsTer14
NM_001287344.1:c.2006del	NP_001274273.1:p.His669LeufsTer14
NM_001287345.1:c.1376del	NP_001274274.1:p.His459LeufsTer14
NM_000061.3:c.1904del MANE Select	NP_000052.1:p.His635LeufsTer14
NM_001287344.2:c.2006del	NP_001274273.1:p.His669LeufsTer14
NM_001287345.2:c.1376del	NP_001274274.1:p.His459LeufsTer14