Canonical Allele Identifier: CA2822685210

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349787_101349788del , CM000685.2:g.101349787_101349788del	GRCh38
NC_000023.10:g.100604775_100604776del , CM000685.1:g.100604775_100604776del	GRCh37
NC_000023.9:g.100491431_100491432del	NCBI36
NG_009616.1:g.41439_41440del , LRG_128:g.41439_41440del
NG_011734.1:g.4184_4185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3596_3597del
ENST00000488970.2:n.4235_4236del
ENST00000695614.1:c.*99_*100del	ENSP00000512053.1:n.*99_*100del
ENST00000695615.1:c.*99_*100del	ENSP00000512054.1:n.*99_*100del
ENST00000695616.1:c.*1924_*1925del	ENSP00000512055.1:n.*1924_*1925del
ENST00000695617.1:c.*99_*100del	ENSP00000512056.1:n.*99_*100del
ENST00000695618.1:c.*1828_*1829del	ENSP00000512058.1:n.*1828_*1829del
ENST00000695619.1:c.*1789_*1790del	ENSP00000512059.1:n.*1789_*1790del
ENST00000695620.1:c.*2005_*2006del	ENSP00000512060.1:n.*2005_*2006del
ENST00000695621.1:c.*504_*505del	ENSP00000512061.1:n.*504_*505del
ENST00000695622.1:c.*99_*100del	ENSP00000512062.1:n.*99_*100del
ENST00000695623.1:c.*99_*100del	ENSP00000512063.1:n.*99_*100del
ENST00000695624.1:n.1384_1385del
ENST00000695625.1:c.*99_*100del	ENSP00000512064.1:n.*99_*100del
ENST00000703407.1:c.*99_*100del	ENSP00000512057.1:n.*99_*100del
ENST00000308731.8:c.*99_*100del MANE Select	ENSP00000308176.8:n.*99_*100del
ENST00000308731.7:c.*99_*100del	ENSP00000308176.7:n.*99_*100del
ENST00000372880.5:c.*99_*100del	ENSP00000361971.1:n.*99_*100del
ENST00000618050.4:c.2078_2079del	ENSP00000479125.1:n.2078_2079del
ENST00000621635.4:c.*99_*100del	ENSP00000483570.1:n.*99_*100del
NM_000061.2:c.*99_*100del , LRG_128t1:c.*99_*100del	NP_000052.1:n.*99_*100del
NM_001287344.1:c.*99_*100del	NP_001274273.1:n.*99_*100del
NM_001287345.1:c.*99_*100del	NP_001274274.1:n.*99_*100del
NM_000061.3:c.*99_*100del MANE Select	NP_000052.1:n.*99_*100del
NM_001287344.2:c.*99_*100del	NP_001274273.1:n.*99_*100del
NM_001287345.2:c.*99_*100del	NP_001274274.1:n.*99_*100del