Canonical Allele Identifier: CA2695235433

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356855del , CM000685.2:g.101356855del	GRCh38
NC_000023.10:g.100611843del , CM000685.1:g.100611843del	GRCh37
NC_000023.9:g.100498499del	NCBI36
NG_009616.1:g.34370del , LRG_128:g.34370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1438del
ENST00000488970.2:n.1436del
ENST00000695614.1:c.1278del	ENSP00000512053.1:p.Asp426GlufsTer6
ENST00000695615.1:c.1278del	ENSP00000512054.1:p.Asp426GlufsTer6
ENST00000695616.1:c.*1123del	ENSP00000512055.1:n.*1123del
ENST00000695617.1:c.1275del	ENSP00000512056.1:p.Asp425GlufsTer6
ENST00000695618.1:c.*1027del	ENSP00000512058.1:n.*1027del
ENST00000695619.1:c.*988del	ENSP00000512059.1:n.*988del
ENST00000695620.1:c.*1123del	ENSP00000512060.1:n.*1123del
ENST00000695621.1:c.1278del	ENSP00000512061.1:p.Asp426GlufsTer6
ENST00000695622.1:c.1215del	ENSP00000512062.1:p.Asp405GlufsTer6
ENST00000695623.1:c.1272del	ENSP00000512063.1:p.Asp424GlufsTer6
ENST00000695624.1:n.583del
ENST00000695625.1:c.1278del	ENSP00000512064.1:p.Asp426GlufsTer6
ENST00000695626.1:c.250del	ENSP00000512065.1:p.Arg84ValfsTer?
ENST00000695627.1:c.291del	ENSP00000512066.1:p.Asp97GlufsTer6
ENST00000695628.1:c.190+654del	ENSP00000512067.1:n.190+654del
ENST00000695629.1:c.190+654del	ENSP00000512068.1:n.190+654del
ENST00000695630.1:c.287del
ENST00000695631.1:c.114+1455del
ENST00000695632.1:n.295del
ENST00000703407.1:c.1038+1519del	ENSP00000512057.1:n.1038+1519del
ENST00000308731.8:c.1278del MANE Select	ENSP00000308176.8:p.Asp426GlufsTer6
ENST00000308731.7:c.1278del	ENSP00000308176.7:p.Asp426GlufsTer6
ENST00000372880.5:c.1038+1519del	ENSP00000361971.1:n.1038+1519del
ENST00000470329.1:n.228del
ENST00000618050.4:c.1278del	ENSP00000479125.1:p.Asp426GlufsTer6
ENST00000621635.4:c.1380del	ENSP00000483570.1:p.Asp460GlufsTer6
NM_000061.2:c.1278del , LRG_128t1:c.1278del	NP_000052.1:p.Asp426GlufsTer6
NM_001287344.1:c.1380del	NP_001274273.1:p.Asp460GlufsTer6
NM_001287345.1:c.1038+1519del	NP_001274274.1:n.1038+1519del
NM_000061.3:c.1278del MANE Select	NP_000052.1:p.Asp426GlufsTer6
NM_001287344.2:c.1380del	NP_001274273.1:p.Asp460GlufsTer6
NM_001287345.2:c.1038+1519del	NP_001274274.1:n.1038+1519del