Canonical Allele Identifier: CA2695235350

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353299_101353300delinsGGC , CM000685.2:g.101353299_101353300delinsGGC	GRCh38
NC_000023.10:g.100608287_100608288delinsGGC , CM000685.1:g.100608287_100608288delinsGGC	GRCh37
NC_000023.9:g.100494943_100494944delinsGGC	NCBI36
NG_009616.1:g.37925_37926delinsGCC , LRG_128:g.37925_37926delinsGCC
NG_011734.1:g.670_671delinsGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3319_3320delinsGCC
ENST00000488970.2:n.3958_3959delinsGCC
ENST00000695614.1:c.1802_1803delinsGCC	ENSP00000512053.1:p.Phe601CysfsTer3
ENST00000695615.1:c.1802_1803delinsGCC	ENSP00000512054.1:p.Phe601CysfsTer3
ENST00000695616.1:c.*1647_*1648delinsGCC	ENSP00000512055.1:n.*1647_*1648delinsGCC
ENST00000695617.1:c.1799_1800delinsGCC	ENSP00000512056.1:p.Phe600CysfsTer3
ENST00000695618.1:c.*1551_*1552delinsGCC	ENSP00000512058.1:n.*1551_*1552delinsGCC
ENST00000695619.1:c.*1512_*1513delinsGCC	ENSP00000512059.1:n.*1512_*1513delinsGCC
ENST00000695620.1:c.*1728_*1729delinsGCC	ENSP00000512060.1:n.*1728_*1729delinsGCC
ENST00000695621.1:c.*227_*228delinsGCC	ENSP00000512061.1:n.*227_*228delinsGCC
ENST00000695622.1:c.1739_1740delinsGCC	ENSP00000512062.1:p.Phe580CysfsTer3
ENST00000695623.1:c.1796_1797delinsGCC	ENSP00000512063.1:p.Phe599CysfsTer3
ENST00000695624.1:n.1107_1108delinsGCC
ENST00000695625.1:c.1802_1803delinsGCC	ENSP00000512064.1:p.Phe601CysfsTer3
ENST00000695626.1:c.557_558delinsGCC	ENSP00000512065.1:n.557_558delinsGCC
ENST00000695627.1:c.750_751delinsGCC	ENSP00000512066.1:n.750_751delinsGCC
ENST00000695628.1:c.361_362delinsGCC	ENSP00000512067.1:n.361_362delinsGCC
ENST00000695629.1:c.242_243delinsGCC	ENSP00000512068.1:p.Phe81CysfsTer3
ENST00000695630.1:c.529_530delinsGCC
ENST00000695631.1:c.115-52_115-51delinsGCC
ENST00000703407.1:c.1274_1275delinsGCC	ENSP00000512057.1:p.Phe425CysfsTer3
ENST00000308731.8:c.1802_1803delinsGCC MANE Select	ENSP00000308176.8:p.Phe601CysfsTer3
ENST00000308731.7:c.1802_1803delinsGCC	ENSP00000308176.7:p.Phe601CysfsTer3
ENST00000372880.5:c.1274_1275delinsGCC	ENSP00000361971.1:p.Phe425CysfsTer3
ENST00000470069.1:n.167_168delinsGCC
ENST00000618050.4:c.1801_1802delinsGCC	ENSP00000479125.1:n.1801_1802delinsGCC
ENST00000621635.4:c.1904_1905delinsGCC	ENSP00000483570.1:p.Phe635CysfsTer3
NM_000061.2:c.1802_1803delinsGCC , LRG_128t1:c.1802_1803delinsGCC	NP_000052.1:p.Phe601CysfsTer3
NM_001287344.1:c.1904_1905delinsGCC	NP_001274273.1:p.Phe635CysfsTer3
NM_001287345.1:c.1274_1275delinsGCC	NP_001274274.1:p.Phe425CysfsTer3
NM_000061.3:c.1802_1803delinsGCC MANE Select	NP_000052.1:p.Phe601CysfsTer3
NM_001287344.2:c.1904_1905delinsGCC	NP_001274273.1:p.Phe635CysfsTer3
NM_001287345.2:c.1274_1275delinsGCC	NP_001274274.1:p.Phe425CysfsTer3