Canonical Allele Identifier: CA2695235328

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353194_101353196delinsAAA , CM000685.2:g.101353194_101353196delinsAAA	GRCh38
NC_000023.10:g.100608182_100608184delinsAAA , CM000685.1:g.100608182_100608184delinsAAA	GRCh37
NC_000023.9:g.100494838_100494840delinsAAA	NCBI36
NG_009616.1:g.38029_38031delinsTTT , LRG_128:g.38029_38031delinsTTT
NG_011734.1:g.774_776delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3423_3425delinsTTT
ENST00000488970.2:n.4062_4064delinsTTT
ENST00000695614.1:c.1906_1908delinsTTT	ENSP00000512053.1:p.Glu636Phe
ENST00000695615.1:c.1906_1908delinsTTT	ENSP00000512054.1:p.Glu636Phe
ENST00000695616.1:c.*1751_*1753delinsTTT	ENSP00000512055.1:n.*1751_*1753delinsTTT
ENST00000695617.1:c.1903_1905delinsTTT	ENSP00000512056.1:p.Glu635Phe
ENST00000695618.1:c.*1655_*1657delinsTTT	ENSP00000512058.1:n.*1655_*1657delinsTTT
ENST00000695619.1:c.*1616_*1618delinsTTT	ENSP00000512059.1:n.*1616_*1618delinsTTT
ENST00000695620.1:c.*1832_*1834delinsTTT	ENSP00000512060.1:n.*1832_*1834delinsTTT
ENST00000695621.1:c.*331_*333delinsTTT	ENSP00000512061.1:n.*331_*333delinsTTT
ENST00000695622.1:c.1843_1845delinsTTT	ENSP00000512062.1:p.Glu615Phe
ENST00000695623.1:c.1900_1902delinsTTT	ENSP00000512063.1:p.Glu634Phe
ENST00000695624.1:n.1211_1213delinsTTT
ENST00000695625.1:c.1875+31_1875+33delinsTTT	ENSP00000512064.1:n.1875+31_1875+33delinsTTT
ENST00000695626.1:c.661_663delinsTTT	ENSP00000512065.1:n.661_663delinsTTT
ENST00000695627.1:c.854_856delinsTTT	ENSP00000512066.1:n.854_856delinsTTT
ENST00000695628.1:c.465_467delinsTTT	ENSP00000512067.1:n.465_467delinsTTT
ENST00000695629.1:c.346_348delinsTTT	ENSP00000512068.1:p.Glu116Phe
ENST00000695630.1:c.633_635delinsTTT
ENST00000695631.1:c.167_169delinsTTT
ENST00000703407.1:c.1378_1380delinsTTT	ENSP00000512057.1:p.Glu460Phe
ENST00000308731.8:c.1906_1908delinsTTT MANE Select	ENSP00000308176.8:p.Glu636Phe
ENST00000308731.7:c.1906_1908delinsTTT	ENSP00000308176.7:p.Glu636Phe
ENST00000372880.5:c.1378_1380delinsTTT	ENSP00000361971.1:p.Glu460Phe
ENST00000470069.1:n.271_273delinsTTT
ENST00000618050.4:c.1905_1907delinsTTT	ENSP00000479125.1:n.1905_1907delinsTTT
ENST00000621635.4:c.2008_2010delinsTTT	ENSP00000483570.1:p.Glu670Phe
NM_000061.2:c.1906_1908delinsTTT , LRG_128t1:c.1906_1908delinsTTT	NP_000052.1:p.Glu636Phe
NM_001287344.1:c.2008_2010delinsTTT	NP_001274273.1:p.Glu670Phe
NM_001287345.1:c.1378_1380delinsTTT	NP_001274274.1:p.Glu460Phe
NM_000061.3:c.1906_1908delinsTTT MANE Select	NP_000052.1:p.Glu636Phe
NM_001287344.2:c.2008_2010delinsTTT	NP_001274273.1:p.Glu670Phe
NM_001287345.2:c.1378_1380delinsTTT	NP_001274274.1:p.Glu460Phe