Canonical Allele Identifier: CA2822685521

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353251_101353252del , CM000685.2:g.101353251_101353252del	GRCh38
NC_000023.10:g.100608239_100608240del , CM000685.1:g.100608239_100608240del	GRCh37
NC_000023.9:g.100494895_100494896del	NCBI36
NG_009616.1:g.37974_37975del , LRG_128:g.37974_37975del
NG_011734.1:g.719_720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3368_3369del
ENST00000488970.2:n.4007_4008del
ENST00000695614.1:c.1851_1852del	ENSP00000512053.1:p.Tyr617Ter
ENST00000695615.1:c.1851_1852del	ENSP00000512054.1:p.Tyr617Ter
ENST00000695616.1:c.*1696_*1697del	ENSP00000512055.1:n.*1696_*1697del
ENST00000695617.1:c.1848_1849del	ENSP00000512056.1:p.Tyr616Ter
ENST00000695618.1:c.*1600_*1601del	ENSP00000512058.1:n.*1600_*1601del
ENST00000695619.1:c.*1561_*1562del	ENSP00000512059.1:n.*1561_*1562del
ENST00000695620.1:c.*1777_*1778del	ENSP00000512060.1:n.*1777_*1778del
ENST00000695621.1:c.*276_*277del	ENSP00000512061.1:n.*276_*277del
ENST00000695622.1:c.1788_1789del	ENSP00000512062.1:p.Tyr596Ter
ENST00000695623.1:c.1845_1846del	ENSP00000512063.1:p.Tyr615Ter
ENST00000695624.1:n.1156_1157del
ENST00000695625.1:c.1851_1852del	ENSP00000512064.1:p.Tyr617Ter
ENST00000695626.1:c.606_607del	ENSP00000512065.1:n.606_607del
ENST00000695627.1:c.799_800del	ENSP00000512066.1:n.799_800del
ENST00000695628.1:c.410_411del	ENSP00000512067.1:n.410_411del
ENST00000695629.1:c.291_292del	ENSP00000512068.1:p.Tyr97Ter
ENST00000695630.1:c.578_579del
ENST00000695631.1:c.115-3_115-2del
ENST00000703407.1:c.1323_1324del	ENSP00000512057.1:p.Tyr441Ter
ENST00000308731.8:c.1851_1852del MANE Select	ENSP00000308176.8:p.Tyr617Ter
ENST00000308731.7:c.1851_1852del	ENSP00000308176.7:p.Tyr617Ter
ENST00000372880.5:c.1323_1324del	ENSP00000361971.1:p.Tyr441Ter
ENST00000470069.1:n.216_217del
ENST00000618050.4:c.1850_1851del	ENSP00000479125.1:n.1850_1851del
ENST00000621635.4:c.1953_1954del	ENSP00000483570.1:p.Tyr651Ter
NM_000061.2:c.1851_1852del , LRG_128t1:c.1851_1852del	NP_000052.1:p.Tyr617Ter
NM_001287344.1:c.1953_1954del	NP_001274273.1:p.Tyr651Ter
NM_001287345.1:c.1323_1324del	NP_001274274.1:p.Tyr441Ter
NM_000061.3:c.1851_1852del MANE Select	NP_000052.1:p.Tyr617Ter
NM_001287344.2:c.1953_1954del	NP_001274273.1:p.Tyr651Ter
NM_001287345.2:c.1323_1324del	NP_001274274.1:p.Tyr441Ter