Canonical Allele Identifier: CA2695235340

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353220_101353221insTG , CM000685.2:g.101353220_101353221insTG	GRCh38
NC_000023.10:g.100608208_100608209insTG , CM000685.1:g.100608208_100608209insTG	GRCh37
NC_000023.9:g.100494864_100494865insTG	NCBI36
NG_009616.1:g.38004_38005insCA , LRG_128:g.38004_38005insCA
NG_011734.1:g.749_750insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3398_3399insCA
ENST00000488970.2:n.4037_4038insCA
ENST00000695614.1:c.1881_1882insCA	ENSP00000512053.1:p.Thr628GlnfsTer22
ENST00000695615.1:c.1881_1882insCA	ENSP00000512054.1:p.Thr628GlnfsTer22
ENST00000695616.1:c.*1726_*1727insCA	ENSP00000512055.1:n.*1726_*1727insCA
ENST00000695617.1:c.1878_1879insCA	ENSP00000512056.1:p.Thr627GlnfsTer22
ENST00000695618.1:c.*1630_*1631insCA	ENSP00000512058.1:n.*1630_*1631insCA
ENST00000695619.1:c.*1591_*1592insCA	ENSP00000512059.1:n.*1591_*1592insCA
ENST00000695620.1:c.*1807_*1808insCA	ENSP00000512060.1:n.*1807_*1808insCA
ENST00000695621.1:c.*306_*307insCA	ENSP00000512061.1:n.*306_*307insCA
ENST00000695622.1:c.1818_1819insCA	ENSP00000512062.1:p.Thr607GlnfsTer22
ENST00000695623.1:c.1875_1876insCA	ENSP00000512063.1:p.Thr626GlnfsTer22
ENST00000695624.1:n.1186_1187insCA
ENST00000695625.1:c.1875+6_1875+7insCA	ENSP00000512064.1:n.1875+6_1875+7insCA
ENST00000695626.1:c.636_637insCA	ENSP00000512065.1:n.636_637insCA
ENST00000695627.1:c.829_830insCA	ENSP00000512066.1:n.829_830insCA
ENST00000695628.1:c.440_441insCA	ENSP00000512067.1:n.440_441insCA
ENST00000695629.1:c.321_322insCA	ENSP00000512068.1:p.Thr108GlnfsTer22
ENST00000695630.1:c.608_609insCA
ENST00000695631.1:c.142_143insCA
ENST00000703407.1:c.1353_1354insCA	ENSP00000512057.1:p.Thr452GlnfsTer22
ENST00000308731.8:c.1881_1882insCA MANE Select	ENSP00000308176.8:p.Thr628GlnfsTer22
ENST00000308731.7:c.1881_1882insCA	ENSP00000308176.7:p.Thr628GlnfsTer22
ENST00000372880.5:c.1353_1354insCA	ENSP00000361971.1:p.Thr452GlnfsTer22
ENST00000470069.1:n.246_247insCA
ENST00000618050.4:c.1880_1881insCA	ENSP00000479125.1:n.1880_1881insCA
ENST00000621635.4:c.1983_1984insCA	ENSP00000483570.1:p.Thr662GlnfsTer22
NM_000061.2:c.1881_1882insCA , LRG_128t1:c.1881_1882insCA	NP_000052.1:p.Thr628GlnfsTer22
NM_001287344.1:c.1983_1984insCA	NP_001274273.1:p.Thr662GlnfsTer22
NM_001287345.1:c.1353_1354insCA	NP_001274274.1:p.Thr452GlnfsTer22
NM_000061.3:c.1881_1882insCA MANE Select	NP_000052.1:p.Thr628GlnfsTer22
NM_001287344.2:c.1983_1984insCA	NP_001274273.1:p.Thr662GlnfsTer22
NM_001287345.2:c.1353_1354insCA	NP_001274274.1:p.Thr452GlnfsTer22