Canonical Allele Identifier: CA2695235353

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353323del , CM000685.2:g.101353323del	GRCh38
NC_000023.10:g.100608311del , CM000685.1:g.100608311del	GRCh37
NC_000023.9:g.100494967del	NCBI36
NG_009616.1:g.37905del , LRG_128:g.37905del
NG_011734.1:g.650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3299del
ENST00000488970.2:n.3938del
ENST00000695614.1:c.1782del	ENSP00000512053.1:p.Lys595ArgfsTer?
ENST00000695615.1:c.1782del	ENSP00000512054.1:p.Lys595ArgfsTer?
ENST00000695616.1:c.*1627del	ENSP00000512055.1:n.*1627del
ENST00000695617.1:c.1779del	ENSP00000512056.1:p.Lys594ArgfsTer?
ENST00000695618.1:c.*1531del	ENSP00000512058.1:n.*1531del
ENST00000695619.1:c.*1492del	ENSP00000512059.1:n.*1492del
ENST00000695620.1:c.*1708del	ENSP00000512060.1:n.*1708del
ENST00000695621.1:c.*207del	ENSP00000512061.1:n.*207del
ENST00000695622.1:c.1719del	ENSP00000512062.1:p.Lys574ArgfsTer?
ENST00000695623.1:c.1776del	ENSP00000512063.1:p.Lys593ArgfsTer?
ENST00000695624.1:n.1087del
ENST00000695625.1:c.1782del	ENSP00000512064.1:p.Lys595ArgfsTer?
ENST00000695626.1:c.537del	ENSP00000512065.1:n.537del
ENST00000695627.1:c.730del	ENSP00000512066.1:n.730del
ENST00000695628.1:c.341del	ENSP00000512067.1:n.341del
ENST00000695629.1:c.222del	ENSP00000512068.1:p.Lys75ArgfsTer?
ENST00000695630.1:c.509del
ENST00000695631.1:c.115-72del
ENST00000703407.1:c.1254del	ENSP00000512057.1:p.Lys419ArgfsTer?
ENST00000308731.8:c.1782del MANE Select	ENSP00000308176.8:p.Lys595ArgfsTer?
ENST00000308731.7:c.1782del	ENSP00000308176.7:p.Lys595ArgfsTer?
ENST00000372880.5:c.1254del	ENSP00000361971.1:p.Lys419ArgfsTer?
ENST00000470069.1:n.147del
ENST00000488970.1:n.384del
ENST00000618050.4:c.1781del	ENSP00000479125.1:n.1781del
ENST00000621635.4:c.1884del	ENSP00000483570.1:p.Lys629ArgfsTer?
NM_000061.2:c.1782del , LRG_128t1:c.1782del	NP_000052.1:p.Lys595ArgfsTer?
NM_001287344.1:c.1884del	NP_001274273.1:p.Lys629ArgfsTer?
NM_001287345.1:c.1254del	NP_001274274.1:p.Lys419ArgfsTer?
NM_000061.3:c.1782del MANE Select	NP_000052.1:p.Lys595ArgfsTer?
NM_001287344.2:c.1884del	NP_001274273.1:p.Lys629ArgfsTer?
NM_001287345.2:c.1254del	NP_001274274.1:p.Lys419ArgfsTer?