Canonical Allele Identifier: CA2695235345

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353257_101353258dup , CM000685.2:g.101353257_101353258dup	GRCh38
NC_000023.10:g.100608245_100608246dup , CM000685.1:g.100608245_100608246dup	GRCh37
NC_000023.9:g.100494901_100494902dup	NCBI36
NG_009616.1:g.37967_37968dup , LRG_128:g.37967_37968dup
NG_011734.1:g.712_713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3361_3362dup
ENST00000488970.2:n.4000_4001dup
ENST00000695614.1:c.1844_1845dup	ENSP00000512053.1:p.Leu616ValfsTer?
ENST00000695615.1:c.1844_1845dup	ENSP00000512054.1:p.Leu616ValfsTer?
ENST00000695616.1:c.*1689_*1690dup	ENSP00000512055.1:n.*1689_*1690dup
ENST00000695617.1:c.1841_1842dup	ENSP00000512056.1:p.Leu615ValfsTer?
ENST00000695618.1:c.*1593_*1594dup	ENSP00000512058.1:n.*1593_*1594dup
ENST00000695619.1:c.*1554_*1555dup	ENSP00000512059.1:n.*1554_*1555dup
ENST00000695620.1:c.*1770_*1771dup	ENSP00000512060.1:n.*1770_*1771dup
ENST00000695621.1:c.*269_*270dup	ENSP00000512061.1:n.*269_*270dup
ENST00000695622.1:c.1781_1782dup	ENSP00000512062.1:p.Leu595ValfsTer?
ENST00000695623.1:c.1838_1839dup	ENSP00000512063.1:p.Leu614ValfsTer?
ENST00000695624.1:n.1149_1150dup
ENST00000695625.1:c.1844_1845dup	ENSP00000512064.1:p.Leu616ValfsTer23
ENST00000695626.1:c.599_600dup	ENSP00000512065.1:n.599_600dup
ENST00000695627.1:c.792_793dup	ENSP00000512066.1:n.792_793dup
ENST00000695628.1:c.403_404dup	ENSP00000512067.1:n.403_404dup
ENST00000695629.1:c.284_285dup	ENSP00000512068.1:p.Leu96ValfsTer?
ENST00000695630.1:c.571_572dup
ENST00000695631.1:c.115-10_115-9dup
ENST00000703407.1:c.1316_1317dup	ENSP00000512057.1:p.Leu440ValfsTer?
ENST00000308731.8:c.1844_1845dup MANE Select	ENSP00000308176.8:p.Leu616ValfsTer?
ENST00000308731.7:c.1844_1845dup	ENSP00000308176.7:p.Leu616ValfsTer?
ENST00000372880.5:c.1316_1317dup	ENSP00000361971.1:p.Leu440ValfsTer?
ENST00000470069.1:n.209_210dup
ENST00000618050.4:c.1843_1844dup	ENSP00000479125.1:n.1843_1844dup
ENST00000621635.4:c.1946_1947dup	ENSP00000483570.1:p.Leu650ValfsTer?
NM_000061.2:c.1844_1845dup , LRG_128t1:c.1844_1845dup	NP_000052.1:p.Leu616ValfsTer?
NM_001287344.1:c.1946_1947dup	NP_001274273.1:p.Leu650ValfsTer?
NM_001287345.1:c.1316_1317dup	NP_001274274.1:p.Leu440ValfsTer?
NM_000061.3:c.1844_1845dup MANE Select	NP_000052.1:p.Leu616ValfsTer?
NM_001287344.2:c.1946_1947dup	NP_001274273.1:p.Leu650ValfsTer?
NM_001287345.2:c.1316_1317dup	NP_001274274.1:p.Leu440ValfsTer?