Canonical Allele Identifier: CA2695235497

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359312del , CM000685.2:g.101359312del	GRCh38
NC_000023.10:g.100614300del , CM000685.1:g.100614300del	GRCh37
NC_000023.9:g.100500956del	NCBI36
NG_009616.1:g.31913del , LRG_128:g.31913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.655del
ENST00000478995.2:n.1035del
ENST00000488970.2:n.1033del
ENST00000695614.1:c.875del	ENSP00000512053.1:p.Glu292GlyfsTer4
ENST00000695615.1:c.875del	ENSP00000512054.1:p.Glu292GlyfsTer4
ENST00000695616.1:c.*720del	ENSP00000512055.1:n.*720del
ENST00000695617.1:c.872del	ENSP00000512056.1:p.Glu291GlyfsTer4
ENST00000695618.1:c.*624del	ENSP00000512058.1:n.*624del
ENST00000695619.1:c.*684+776del	ENSP00000512059.1:n.*684+776del
ENST00000695620.1:c.*720del	ENSP00000512060.1:n.*720del
ENST00000695621.1:c.875del	ENSP00000512061.1:p.Glu292GlyfsTer4
ENST00000695622.1:c.812del	ENSP00000512062.1:p.Glu271GlyfsTer4
ENST00000695623.1:c.869del	ENSP00000512063.1:p.Glu290GlyfsTer4
ENST00000695624.1:n.180del
ENST00000695625.1:c.875del	ENSP00000512064.1:p.Glu292GlyfsTer4
ENST00000703407.1:c.875del	ENSP00000512057.1:p.Glu292GlyfsTer4
ENST00000308731.8:c.875del MANE Select	ENSP00000308176.8:p.Glu292GlyfsTer4
ENST00000308731.7:c.875del	ENSP00000308176.7:p.Glu292GlyfsTer4
ENST00000372880.5:c.875del	ENSP00000361971.1:p.Glu292GlyfsTer4
ENST00000618050.4:c.875del	ENSP00000479125.1:p.Glu292GlyfsTer4
ENST00000621635.4:c.977del	ENSP00000483570.1:p.Glu326GlyfsTer4
NM_000061.2:c.875del , LRG_128t1:c.875del	NP_000052.1:p.Glu292GlyfsTer4
NM_001287344.1:c.977del	NP_001274273.1:p.Glu326GlyfsTer4
NM_001287345.1:c.875del	NP_001274274.1:p.Glu292GlyfsTer4
NM_000061.3:c.875del MANE Select	NP_000052.1:p.Glu292GlyfsTer4
NM_001287344.2:c.977del	NP_001274273.1:p.Glu326GlyfsTer4
NM_001287345.2:c.875del	NP_001274274.1:p.Glu292GlyfsTer4