Canonical Allele Identifier: CA2695235380

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353933_101353954del , CM000685.2:g.101353933_101353954del	GRCh38
NC_000023.10:g.100608921_100608942del , CM000685.1:g.100608921_100608942del	GRCh37
NC_000023.9:g.100495577_100495598del	NCBI36
NG_009616.1:g.37273_37294del , LRG_128:g.37273_37294del
NG_011734.1:g.18_39del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3185_3206del
ENST00000488970.2:n.3824_3845del
ENST00000695614.1:c.1668_1689del	ENSP00000512053.1:p.Ser557ProfsTer6
ENST00000695615.1:c.1668_1689del	ENSP00000512054.1:p.Ser557ProfsTer6
ENST00000695616.1:c.*1513_*1534del	ENSP00000512055.1:n.*1513_*1534del
ENST00000695617.1:c.1665_1686del	ENSP00000512056.1:p.Ser556ProfsTer6
ENST00000695618.1:c.*1417_*1438del	ENSP00000512058.1:n.*1417_*1438del
ENST00000695619.1:c.*1378_*1399del	ENSP00000512059.1:n.*1378_*1399del
ENST00000695620.1:c.*1594_*1615del	ENSP00000512060.1:n.*1594_*1615del
ENST00000695621.1:c.*93_*114del	ENSP00000512061.1:n.*93_*114del
ENST00000695622.1:c.1605_1626del	ENSP00000512062.1:p.Ser536ProfsTer6
ENST00000695623.1:c.1662_1683del	ENSP00000512063.1:p.Ser555ProfsTer6
ENST00000695624.1:n.973_994del
ENST00000695625.1:c.1668_1689del	ENSP00000512064.1:p.Ser557ProfsTer6
ENST00000695626.1:c.423_444del	ENSP00000512065.1:n.423_444del
ENST00000695627.1:c.616_637del	ENSP00000512066.1:n.616_637del
ENST00000695628.1:c.227_248del	ENSP00000512067.1:n.227_248del
ENST00000695629.1:c.191-601_191-580del	ENSP00000512068.1:n.191-601_191-580del
ENST00000695630.1:c.395_416del
ENST00000695631.1:c.115-704_115-683del
ENST00000695632.1:n.468_489del
ENST00000703407.1:c.1140_1161del	ENSP00000512057.1:p.Ser381ProfsTer6
ENST00000308731.8:c.1668_1689del MANE Select	ENSP00000308176.8:p.Ser557ProfsTer6
ENST00000308731.7:c.1668_1689del	ENSP00000308176.7:p.Ser557ProfsTer6
ENST00000372880.5:c.1140_1161del	ENSP00000361971.1:p.Ser381ProfsTer6
ENST00000470069.1:n.33_54del
ENST00000488970.1:n.270_291del
ENST00000618050.4:c.1668_1689del	ENSP00000479125.1:p.Ser557ProfsTer8
ENST00000621635.4:c.1770_1791del	ENSP00000483570.1:p.Ser591ProfsTer6
NM_000061.2:c.1668_1689del , LRG_128t1:c.1668_1689del	NP_000052.1:p.Ser557ProfsTer6
NM_001287344.1:c.1770_1791del	NP_001274273.1:p.Ser591ProfsTer6
NM_001287345.1:c.1140_1161del	NP_001274274.1:p.Ser381ProfsTer6
NM_000061.3:c.1668_1689del MANE Select	NP_000052.1:p.Ser557ProfsTer6
NM_001287344.2:c.1770_1791del	NP_001274273.1:p.Ser591ProfsTer6
NM_001287345.2:c.1140_1161del	NP_001274274.1:p.Ser381ProfsTer6