Canonical Allele Identifier: CA645373311

Gene: BTK

Linked Data

• ClinVar Variation Id: 432282
• ClinVar RCV Id: RCV000498434
• dbSNP Id: rs1555977341
• MyVariant Identifiers: chrX:g.100608319del (hg19) ; chrX:g.101353331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353333del , CM000685.2:g.101353333del	GRCh38
NC_000023.10:g.100608321del , CM000685.1:g.100608321del	GRCh37
NC_000023.9:g.100494977del	NCBI36
NG_009616.1:g.37894del , LRG_128:g.37894del
NG_011734.1:g.639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3288del
ENST00000488970.2:n.3927del
ENST00000695614.1:c.1771del	ENSP00000512053.1:p.Tyr591ThrfsTer?
ENST00000695615.1:c.1771del	ENSP00000512054.1:p.Tyr591ThrfsTer?
ENST00000695616.1:c.*1616del	ENSP00000512055.1:n.*1616del
ENST00000695617.1:c.1768del	ENSP00000512056.1:p.Tyr590ThrfsTer?
ENST00000695618.1:c.*1520del	ENSP00000512058.1:n.*1520del
ENST00000695619.1:c.*1481del	ENSP00000512059.1:n.*1481del
ENST00000695620.1:c.*1697del	ENSP00000512060.1:n.*1697del
ENST00000695621.1:c.*196del	ENSP00000512061.1:n.*196del
ENST00000695622.1:c.1708del	ENSP00000512062.1:p.Tyr570ThrfsTer?
ENST00000695623.1:c.1765del	ENSP00000512063.1:p.Tyr589ThrfsTer?
ENST00000695624.1:n.1076del
ENST00000695625.1:c.1771del	ENSP00000512064.1:p.Tyr591ThrfsTer?
ENST00000695626.1:c.526del	ENSP00000512065.1:n.526del
ENST00000695627.1:c.719del	ENSP00000512066.1:n.719del
ENST00000695628.1:c.330del	ENSP00000512067.1:n.330del
ENST00000695629.1:c.211del	ENSP00000512068.1:p.Tyr71ThrfsTer?
ENST00000695630.1:c.498del
ENST00000695631.1:c.115-83del
ENST00000703407.1:c.1243del	ENSP00000512057.1:p.Tyr415ThrfsTer?
ENST00000308731.8:c.1771del MANE Select	ENSP00000308176.8:p.Tyr591ThrfsTer?
ENST00000308731.7:c.1771del	ENSP00000308176.7:p.Tyr591ThrfsTer?
ENST00000372880.5:c.1243del	ENSP00000361971.1:p.Tyr415ThrfsTer?
ENST00000470069.1:n.136del
ENST00000488970.1:n.373del
ENST00000618050.4:c.1770del	ENSP00000479125.1:n.1770del
ENST00000621635.4:c.1873del	ENSP00000483570.1:p.Tyr625ThrfsTer?
NM_000061.2:c.1771del , LRG_128t1:c.1771del	NP_000052.1:p.Tyr591ThrfsTer?
NM_001287344.1:c.1873del	NP_001274273.1:p.Tyr625ThrfsTer?
NM_001287345.1:c.1243del	NP_001274274.1:p.Tyr415ThrfsTer?
NM_000061.3:c.1771del MANE Select	NP_000052.1:p.Tyr591ThrfsTer?
NM_001287344.2:c.1873del	NP_001274273.1:p.Tyr625ThrfsTer?
NM_001287345.2:c.1243del	NP_001274274.1:p.Tyr415ThrfsTer?