Canonical Allele Identifier: CA2695235338

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353219_101353223delinsTTGGCATGTACTG , CM000685.2:g.101353219_101353223delinsTTGGCATGTACTG	GRCh38
NC_000023.10:g.100608207_100608211delinsTTGGCATGTACTG , CM000685.1:g.100608207_100608211delinsTTGGCATGTACTG	GRCh37
NC_000023.9:g.100494863_100494867delinsTTGGCATGTACTG	NCBI36
NG_009616.1:g.38002_38006delinsCAGTACATGCCAA , LRG_128:g.38002_38006delinsCAGTACATGCCAA
NG_011734.1:g.747_751delinsCAGTACATGCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3396_3400delinsCAGTACATGCCAA
ENST00000488970.2:n.4035_4039delinsCAGTACATGCCAA
ENST00000695614.1:c.1879_1883delinsCAGTACATGCCAA	ENSP00000512053.1:p.Tyr627GlnfsTer25
ENST00000695615.1:c.1879_1883delinsCAGTACATGCCAA	ENSP00000512054.1:p.Tyr627GlnfsTer25
ENST00000695616.1:c.*1724_*1728delinsCAGTACATGCCAA	ENSP00000512055.1:n.*1724_*1728delinsCAGTACATGCCAA
ENST00000695617.1:c.1876_1880delinsCAGTACATGCCAA	ENSP00000512056.1:p.Tyr626GlnfsTer25
ENST00000695618.1:c.*1628_*1632delinsCAGTACATGCCAA	ENSP00000512058.1:n.*1628_*1632delinsCAGTACATGCCAA
ENST00000695619.1:c.*1589_*1593delinsCAGTACATGCCAA	ENSP00000512059.1:n.*1589_*1593delinsCAGTACATGCCAA
ENST00000695620.1:c.*1805_*1809delinsCAGTACATGCCAA	ENSP00000512060.1:n.*1805_*1809delinsCAGTACATGCCAA
ENST00000695621.1:c.*304_*308delinsCAGTACATGCCAA	ENSP00000512061.1:n.*304_*308delinsCAGTACATGCCAA
ENST00000695622.1:c.1816_1820delinsCAGTACATGCCAA	ENSP00000512062.1:p.Tyr606GlnfsTer25
ENST00000695623.1:c.1873_1877delinsCAGTACATGCCAA	ENSP00000512063.1:p.Tyr625GlnfsTer25
ENST00000695624.1:n.1184_1188delinsCAGTACATGCCAA
ENST00000695625.1:c.1875+4_1875+8delinsCAGTACATGCCAA	ENSP00000512064.1:n.1875+4_1875+8delinsCAGTACATGCCAA
ENST00000695626.1:c.634_638delinsCAGTACATGCCAA	ENSP00000512065.1:n.634_638delinsCAGTACATGCCAA
ENST00000695627.1:c.827_831delinsCAGTACATGCCAA	ENSP00000512066.1:n.827_831delinsCAGTACATGCCAA
ENST00000695628.1:c.438_442delinsCAGTACATGCCAA	ENSP00000512067.1:n.438_442delinsCAGTACATGCCAA
ENST00000695629.1:c.319_323delinsCAGTACATGCCAA	ENSP00000512068.1:p.Tyr107GlnfsTer25
ENST00000695630.1:c.606_610delinsCAGTACATGCCAA
ENST00000695631.1:c.140_144delinsCAGTACATGCCAA
ENST00000703407.1:c.1351_1355delinsCAGTACATGCCAA	ENSP00000512057.1:p.Tyr451GlnfsTer25
ENST00000308731.8:c.1879_1883delinsCAGTACATGCCAA MANE Select	ENSP00000308176.8:p.Tyr627GlnfsTer25
ENST00000308731.7:c.1879_1883delinsCAGTACATGCCAA	ENSP00000308176.7:p.Tyr627GlnfsTer25
ENST00000372880.5:c.1351_1355delinsCAGTACATGCCAA	ENSP00000361971.1:p.Tyr451GlnfsTer25
ENST00000470069.1:n.244_248delinsCAGTACATGCCAA
ENST00000618050.4:c.1878_1882delinsCAGTACATGCCAA	ENSP00000479125.1:n.1878_1882delinsCAGTACATGCCAA
ENST00000621635.4:c.1981_1985delinsCAGTACATGCCAA	ENSP00000483570.1:p.Tyr661GlnfsTer25
NM_000061.2:c.1879_1883delinsCAGTACATGCCAA , LRG_128t1:c.1879_1883delinsCAGTACATGCCAA	NP_000052.1:p.Tyr627GlnfsTer25
NM_001287344.1:c.1981_1985delinsCAGTACATGCCAA	NP_001274273.1:p.Tyr661GlnfsTer25
NM_001287345.1:c.1351_1355delinsCAGTACATGCCAA	NP_001274274.1:p.Tyr451GlnfsTer25
NM_000061.3:c.1879_1883delinsCAGTACATGCCAA MANE Select	NP_000052.1:p.Tyr627GlnfsTer25
NM_001287344.2:c.1981_1985delinsCAGTACATGCCAA	NP_001274273.1:p.Tyr661GlnfsTer25
NM_001287345.2:c.1351_1355delinsCAGTACATGCCAA	NP_001274274.1:p.Tyr451GlnfsTer25