Canonical Allele Identifier: CA2695235335

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353211del , CM000685.2:g.101353211del	GRCh38
NC_000023.10:g.100608199del , CM000685.1:g.100608199del	GRCh37
NC_000023.9:g.100494855del	NCBI36
NG_009616.1:g.38014del , LRG_128:g.38014del
NG_011734.1:g.759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3408del
ENST00000488970.2:n.4047del
ENST00000695614.1:c.1891del	ENSP00000512053.1:p.Tyr631ThrfsTer18
ENST00000695615.1:c.1891del	ENSP00000512054.1:p.Tyr631ThrfsTer18
ENST00000695616.1:c.*1736del	ENSP00000512055.1:n.*1736del
ENST00000695617.1:c.1888del	ENSP00000512056.1:p.Tyr630ThrfsTer18
ENST00000695618.1:c.*1640del	ENSP00000512058.1:n.*1640del
ENST00000695619.1:c.*1601del	ENSP00000512059.1:n.*1601del
ENST00000695620.1:c.*1817del	ENSP00000512060.1:n.*1817del
ENST00000695621.1:c.*316del	ENSP00000512061.1:n.*316del
ENST00000695622.1:c.1828del	ENSP00000512062.1:p.Tyr610ThrfsTer18
ENST00000695623.1:c.1885del	ENSP00000512063.1:p.Tyr629ThrfsTer18
ENST00000695624.1:n.1196del
ENST00000695625.1:c.1875+16del	ENSP00000512064.1:n.1875+16del
ENST00000695626.1:c.646del	ENSP00000512065.1:n.646del
ENST00000695627.1:c.839del	ENSP00000512066.1:n.839del
ENST00000695628.1:c.450del	ENSP00000512067.1:n.450del
ENST00000695629.1:c.331del	ENSP00000512068.1:p.Tyr111ThrfsTer18
ENST00000695630.1:c.618del
ENST00000695631.1:c.152del
ENST00000703407.1:c.1363del	ENSP00000512057.1:p.Tyr455ThrfsTer18
ENST00000308731.8:c.1891del MANE Select	ENSP00000308176.8:p.Tyr631ThrfsTer18
ENST00000308731.7:c.1891del	ENSP00000308176.7:p.Tyr631ThrfsTer18
ENST00000372880.5:c.1363del	ENSP00000361971.1:p.Tyr455ThrfsTer18
ENST00000470069.1:n.256del
ENST00000618050.4:c.1890del	ENSP00000479125.1:n.1890del
ENST00000621635.4:c.1993del	ENSP00000483570.1:p.Tyr665ThrfsTer18
NM_000061.2:c.1891del , LRG_128t1:c.1891del	NP_000052.1:p.Tyr631ThrfsTer18
NM_001287344.1:c.1993del	NP_001274273.1:p.Tyr665ThrfsTer18
NM_001287345.1:c.1363del	NP_001274274.1:p.Tyr455ThrfsTer18
NM_000061.3:c.1891del MANE Select	NP_000052.1:p.Tyr631ThrfsTer18
NM_001287344.2:c.1993del	NP_001274273.1:p.Tyr665ThrfsTer18
NM_001287345.2:c.1363del	NP_001274274.1:p.Tyr455ThrfsTer18