Canonical Allele Identifier: CA2822688508

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353338_101353339del , CM000685.2:g.101353338_101353339del	GRCh38
NC_000023.10:g.100608326_100608327del , CM000685.1:g.100608326_100608327del	GRCh37
NC_000023.9:g.100494982_100494983del	NCBI36
NG_009616.1:g.37887_37888del , LRG_128:g.37887_37888del
NG_011734.1:g.632_633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3281_3282del
ENST00000488970.2:n.3920_3921del
ENST00000695614.1:c.1764_1765del	ENSP00000512053.1:p.Trp588Ter
ENST00000695615.1:c.1764_1765del	ENSP00000512054.1:p.Trp588Ter
ENST00000695616.1:c.*1609_*1610del	ENSP00000512055.1:n.*1609_*1610del
ENST00000695617.1:c.1761_1762del	ENSP00000512056.1:p.Trp587Ter
ENST00000695618.1:c.*1513_*1514del	ENSP00000512058.1:n.*1513_*1514del
ENST00000695619.1:c.*1474_*1475del	ENSP00000512059.1:n.*1474_*1475del
ENST00000695620.1:c.*1690_*1691del	ENSP00000512060.1:n.*1690_*1691del
ENST00000695621.1:c.*189_*190del	ENSP00000512061.1:n.*189_*190del
ENST00000695622.1:c.1701_1702del	ENSP00000512062.1:p.Trp567Ter
ENST00000695623.1:c.1758_1759del	ENSP00000512063.1:p.Trp586Ter
ENST00000695624.1:n.1069_1070del
ENST00000695625.1:c.1764_1765del	ENSP00000512064.1:p.Trp588Ter
ENST00000695626.1:c.519_520del	ENSP00000512065.1:n.519_520del
ENST00000695627.1:c.712_713del	ENSP00000512066.1:n.712_713del
ENST00000695628.1:c.323_324del	ENSP00000512067.1:n.323_324del
ENST00000695629.1:c.204_205del	ENSP00000512068.1:p.Trp68Ter
ENST00000695630.1:c.491_492del
ENST00000695631.1:c.115-90_115-89del
ENST00000703407.1:c.1236_1237del	ENSP00000512057.1:p.Trp412Ter
ENST00000308731.8:c.1764_1765del MANE Select	ENSP00000308176.8:p.Trp588Ter
ENST00000308731.7:c.1764_1765del	ENSP00000308176.7:p.Trp588Ter
ENST00000372880.5:c.1236_1237del	ENSP00000361971.1:p.Trp412Ter
ENST00000470069.1:n.129_130del
ENST00000488970.1:n.366_367del
ENST00000618050.4:c.1763_1764del	ENSP00000479125.1:n.1763_1764del
ENST00000621635.4:c.1866_1867del	ENSP00000483570.1:p.Trp622Ter
NM_000061.2:c.1764_1765del , LRG_128t1:c.1764_1765del	NP_000052.1:p.Trp588Ter
NM_001287344.1:c.1866_1867del	NP_001274273.1:p.Trp622Ter
NM_001287345.1:c.1236_1237del	NP_001274274.1:p.Trp412Ter
NM_000061.3:c.1764_1765del MANE Select	NP_000052.1:p.Trp588Ter
NM_001287344.2:c.1866_1867del	NP_001274273.1:p.Trp622Ter
NM_001287345.2:c.1236_1237del	NP_001274274.1:p.Trp412Ter