Canonical Allele Identifier: CA2822688509

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353350_101353351insAAACACACCCAACA , CM000685.2:g.101353350_101353351insAAACACACCCAACA	GRCh38
NC_000023.10:g.100608338_100608339insAAACACACCCAACA , CM000685.1:g.100608338_100608339insAAACACACCCAACA	GRCh37
NC_000023.9:g.100494994_100494995insAAACACACCCAACA	NCBI36
NG_009616.1:g.37874_37875insTGTTGGGTGTGTTT , LRG_128:g.37874_37875insTGTTGGGTGTGTTT
NG_011734.1:g.619_620insTGTTGGGTGTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3268_3269insTGTTGGGTGTGTTT
ENST00000488970.2:n.3907_3908insTGTTGGGTGTGTTT
ENST00000695614.1:c.1751_1752insTGTTGGGTGTGTTT	ENSP00000512053.1:p.Leu586GlyfsTer6
ENST00000695615.1:c.1751_1752insTGTTGGGTGTGTTT	ENSP00000512054.1:p.Leu586GlyfsTer6
ENST00000695616.1:c.*1596_*1597insTGTTGGGTGTGTTT	ENSP00000512055.1:n.*1596_*1597insTGTTGGGTGTGTTT
ENST00000695617.1:c.1748_1749insTGTTGGGTGTGTTT	ENSP00000512056.1:p.Leu585GlyfsTer6
ENST00000695618.1:c.*1500_*1501insTGTTGGGTGTGTTT	ENSP00000512058.1:n.*1500_*1501insTGTTGGGTGTGTTT
ENST00000695619.1:c.*1461_*1462insTGTTGGGTGTGTTT	ENSP00000512059.1:n.*1461_*1462insTGTTGGGTGTGTTT
ENST00000695620.1:c.*1677_*1678insTGTTGGGTGTGTTT	ENSP00000512060.1:n.*1677_*1678insTGTTGGGTGTGTTT
ENST00000695621.1:c.*176_*177insTGTTGGGTGTGTTT	ENSP00000512061.1:n.*176_*177insTGTTGGGTGTGTTT
ENST00000695622.1:c.1688_1689insTGTTGGGTGTGTTT	ENSP00000512062.1:p.Leu565GlyfsTer6
ENST00000695623.1:c.1745_1746insTGTTGGGTGTGTTT	ENSP00000512063.1:p.Leu584GlyfsTer6
ENST00000695624.1:n.1056_1057insTGTTGGGTGTGTTT
ENST00000695625.1:c.1751_1752insTGTTGGGTGTGTTT	ENSP00000512064.1:p.Leu586GlyfsTer6
ENST00000695626.1:c.506_507insTGTTGGGTGTGTTT	ENSP00000512065.1:n.506_507insTGTTGGGTGTGTTT
ENST00000695627.1:c.699_700insTGTTGGGTGTGTTT	ENSP00000512066.1:n.699_700insTGTTGGGTGTGTTT
ENST00000695628.1:c.310_311insTGTTGGGTGTGTTT	ENSP00000512067.1:n.310_311insTGTTGGGTGTGTTT
ENST00000695629.1:c.191_192insTGTTGGGTGTGTTT	ENSP00000512068.1:p.Leu66GlyfsTer6
ENST00000695630.1:c.478_479insTGTTGGGTGTGTTT
ENST00000695631.1:c.115-103_115-102insTGTTGGGTGTGTTT
ENST00000703407.1:c.1223_1224insTGTTGGGTGTGTTT	ENSP00000512057.1:p.Leu410GlyfsTer6
ENST00000308731.8:c.1751_1752insTGTTGGGTGTGTTT MANE Select	ENSP00000308176.8:p.Leu586GlyfsTer6
ENST00000308731.7:c.1751_1752insTGTTGGGTGTGTTT	ENSP00000308176.7:p.Leu586GlyfsTer6
ENST00000372880.5:c.1223_1224insTGTTGGGTGTGTTT	ENSP00000361971.1:p.Leu410GlyfsTer6
ENST00000470069.1:n.116_117insTGTTGGGTGTGTTT
ENST00000488970.1:n.353_354insTGTTGGGTGTGTTT
ENST00000618050.4:c.1750_1751insTGTTGGGTGTGTTT	ENSP00000479125.1:n.1750_1751insTGTTGGGTGTGTTT
ENST00000621635.4:c.1853_1854insTGTTGGGTGTGTTT	ENSP00000483570.1:p.Leu620GlyfsTer6
NM_000061.2:c.1751_1752insTGTTGGGTGTGTTT , LRG_128t1:c.1751_1752insTGTTGGGTGTGTTT	NP_000052.1:p.Leu586GlyfsTer6
NM_001287344.1:c.1853_1854insTGTTGGGTGTGTTT	NP_001274273.1:p.Leu620GlyfsTer6
NM_001287345.1:c.1223_1224insTGTTGGGTGTGTTT	NP_001274274.1:p.Leu410GlyfsTer6
NM_000061.3:c.1751_1752insTGTTGGGTGTGTTT MANE Select	NP_000052.1:p.Leu586GlyfsTer6
NM_001287344.2:c.1853_1854insTGTTGGGTGTGTTT	NP_001274273.1:p.Leu620GlyfsTer6
NM_001287345.2:c.1223_1224insTGTTGGGTGTGTTT	NP_001274274.1:p.Leu410GlyfsTer6