Canonical Allele Identifier: CA2695235405

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356087_101356090dup , CM000685.2:g.101356087_101356090dup	GRCh38
NC_000023.10:g.100611075_100611078dup , CM000685.1:g.100611075_100611078dup	GRCh37
NC_000023.9:g.100497731_100497734dup	NCBI36
NG_009616.1:g.35135_35138dup , LRG_128:g.35135_35138dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1688_1691dup
ENST00000488970.2:n.1686_1689dup
ENST00000695614.1:c.1528_1531dup	ENSP00000512053.1:p.Tyr511Ter
ENST00000695615.1:c.1528_1531dup	ENSP00000512054.1:p.Tyr511Ter
ENST00000695616.1:c.*1373_*1376dup	ENSP00000512055.1:n.*1373_*1376dup
ENST00000695617.1:c.1525_1528dup	ENSP00000512056.1:p.Tyr510Ter
ENST00000695618.1:c.*1277_*1280dup	ENSP00000512058.1:n.*1277_*1280dup
ENST00000695619.1:c.*1238_*1241dup	ENSP00000512059.1:n.*1238_*1241dup
ENST00000695620.1:c.*1454_*1457dup	ENSP00000512060.1:n.*1454_*1457dup
ENST00000695621.1:c.1528_1531dup	ENSP00000512061.1:p.Tyr511Ter
ENST00000695622.1:c.1465_1468dup	ENSP00000512062.1:p.Tyr490Ter
ENST00000695623.1:c.1522_1525dup	ENSP00000512063.1:p.Tyr509Ter
ENST00000695624.1:n.833_836dup
ENST00000695625.1:c.1528_1531dup	ENSP00000512064.1:p.Tyr511Ter
ENST00000695626.1:c.321+694_321+697dup	ENSP00000512065.1:n.321+694_321+697dup
ENST00000695627.1:c.541_544dup	ENSP00000512066.1:p.Tyr182Ter
ENST00000695628.1:c.190+1419_190+1422dup	ENSP00000512067.1:n.190+1419_190+1422dup
ENST00000695629.1:c.190+1419_190+1422dup	ENSP00000512068.1:n.190+1419_190+1422dup
ENST00000695630.1:c.358+694_358+697dup
ENST00000695631.1:c.114+2220_114+2223dup
ENST00000695632.1:n.366+694_366+697dup
ENST00000703407.1:c.1039-1396_1039-1393dup	ENSP00000512057.1:n.1039-1396_1039-1393dup
ENST00000308731.8:c.1528_1531dup MANE Select	ENSP00000308176.8:p.Tyr511Ter
ENST00000308731.7:c.1528_1531dup	ENSP00000308176.7:p.Tyr511Ter
ENST00000372880.5:c.1039-1396_1039-1393dup	ENSP00000361971.1:n.1039-1396_1039-1393dup
ENST00000478995.1:n.200_203dup
ENST00000618050.4:c.1528_1531dup	ENSP00000479125.1:p.Tyr511Ter
ENST00000621635.4:c.1630_1633dup	ENSP00000483570.1:p.Tyr545Ter
NM_000061.2:c.1528_1531dup , LRG_128t1:c.1528_1531dup	NP_000052.1:p.Tyr511Ter
NM_001287344.1:c.1630_1633dup	NP_001274273.1:p.Tyr545Ter
NM_001287345.1:c.1039-1396_1039-1393dup	NP_001274274.1:n.1039-1396_1039-1393dup
NM_000061.3:c.1528_1531dup MANE Select	NP_000052.1:p.Tyr511Ter
NM_001287344.2:c.1630_1633dup	NP_001274273.1:p.Tyr545Ter
NM_001287345.2:c.1039-1396_1039-1393dup	NP_001274274.1:n.1039-1396_1039-1393dup