Canonical Allele Identifier: CA2580100131

Gene: BTK

Linked Data

• ClinVar Variation Id: 2138635
• ClinVar RCV Id: RCV003064751

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353239del , CM000685.2:g.101353239del	GRCh38
NC_000023.10:g.100608227del , CM000685.1:g.100608227del	GRCh37
NC_000023.9:g.100494883del	NCBI36
NG_009616.1:g.37987del , LRG_128:g.37987del
NG_011734.1:g.732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3381del
ENST00000488970.2:n.4020del
ENST00000695614.1:c.1864del	ENSP00000512053.1:p.Ala622LeufsTer27
ENST00000695615.1:c.1864del	ENSP00000512054.1:p.Ala622LeufsTer27
ENST00000695616.1:c.*1709del	ENSP00000512055.1:n.*1709del
ENST00000695617.1:c.1861del	ENSP00000512056.1:p.Ala621LeufsTer27
ENST00000695618.1:c.*1613del	ENSP00000512058.1:n.*1613del
ENST00000695619.1:c.*1574del	ENSP00000512059.1:n.*1574del
ENST00000695620.1:c.*1790del	ENSP00000512060.1:n.*1790del
ENST00000695621.1:c.*289del	ENSP00000512061.1:n.*289del
ENST00000695622.1:c.1801del	ENSP00000512062.1:p.Ala601LeufsTer27
ENST00000695623.1:c.1858del	ENSP00000512063.1:p.Ala620LeufsTer27
ENST00000695624.1:n.1169del
ENST00000695625.1:c.1864del	ENSP00000512064.1:p.Ala622LeufsTer16
ENST00000695626.1:c.619del	ENSP00000512065.1:n.619del
ENST00000695627.1:c.812del	ENSP00000512066.1:n.812del
ENST00000695628.1:c.423del	ENSP00000512067.1:n.423del
ENST00000695629.1:c.304del	ENSP00000512068.1:p.Ala102LeufsTer27
ENST00000695630.1:c.591del
ENST00000695631.1:c.125del
ENST00000703407.1:c.1336del	ENSP00000512057.1:p.Ala446LeufsTer27
ENST00000308731.8:c.1864del MANE Select	ENSP00000308176.8:p.Ala622LeufsTer27
ENST00000308731.7:c.1864del	ENSP00000308176.7:p.Ala622LeufsTer27
ENST00000372880.5:c.1336del	ENSP00000361971.1:p.Ala446LeufsTer27
ENST00000470069.1:n.229del
ENST00000618050.4:c.1863del	ENSP00000479125.1:n.1863del
ENST00000621635.4:c.1966del	ENSP00000483570.1:p.Ala656LeufsTer27
NM_000061.2:c.1864del , LRG_128t1:c.1864del	NP_000052.1:p.Ala622LeufsTer27
NM_001287344.1:c.1966del	NP_001274273.1:p.Ala656LeufsTer27
NM_001287345.1:c.1336del	NP_001274274.1:p.Ala446LeufsTer27
NM_000061.3:c.1864del MANE Select	NP_000052.1:p.Ala622LeufsTer27
NM_001287344.2:c.1966del	NP_001274273.1:p.Ala656LeufsTer27
NM_001287345.2:c.1336del	NP_001274274.1:p.Ala446LeufsTer27