Canonical Allele Identifier: CA2509331058
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353201del , CM000685.2:g.101353201del GRCh38
NC_000023.10:g.100608189del , CM000685.1:g.100608189del GRCh37
NC_000023.9:g.100494845del NCBI36
NG_009616.1:g.38025del , LRG_128:g.38025del
NG_011734.1:g.770del

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.3419del
ENST00000488970.2:n.4058del
ENST00000695614.1:c.1902del ENSP00000512053.1:p.Trp634CysfsTer15
ENST00000695615.1:c.1902del ENSP00000512054.1:p.Trp634CysfsTer15
ENST00000695616.1:c.*1747del ENSP00000512055.1:n.*1747del
ENST00000695617.1:c.1899del ENSP00000512056.1:p.Trp633CysfsTer15
ENST00000695618.1:c.*1651del ENSP00000512058.1:n.*1651del
ENST00000695619.1:c.*1612del ENSP00000512059.1:n.*1612del
ENST00000695620.1:c.*1828del ENSP00000512060.1:n.*1828del
ENST00000695621.1:c.*327del ENSP00000512061.1:n.*327del
ENST00000695622.1:c.1839del ENSP00000512062.1:p.Trp613CysfsTer15
ENST00000695623.1:c.1896del ENSP00000512063.1:p.Trp632CysfsTer15
ENST00000695624.1:n.1207del
ENST00000695625.1:c.1875+27del ENSP00000512064.1:n.1875+27del
ENST00000695626.1:c.657del ENSP00000512065.1:n.657del
ENST00000695627.1:c.850del ENSP00000512066.1:n.850del
ENST00000695628.1:c.461del ENSP00000512067.1:n.461del
ENST00000695629.1:c.342del ENSP00000512068.1:p.Trp114CysfsTer15
ENST00000695630.1:c.629del
ENST00000695631.1:c.163del
ENST00000703407.1:c.1374del ENSP00000512057.1:p.Trp458CysfsTer15
ENST00000308731.8:c.1902del MANE Select ENSP00000308176.8:p.Trp634CysfsTer15
ENST00000308731.7:c.1902del ENSP00000308176.7:p.Trp634CysfsTer15
ENST00000372880.5:c.1374del ENSP00000361971.1:p.Trp458CysfsTer15
ENST00000470069.1:n.267del
ENST00000618050.4:c.1901del ENSP00000479125.1:n.1901del
ENST00000621635.4:c.2004del ENSP00000483570.1:p.Trp668CysfsTer15
NM_000061.2:c.1902del , LRG_128t1:c.1902del NP_000052.1:p.Trp634CysfsTer15
NM_001287344.1:c.2004del NP_001274273.1:p.Trp668CysfsTer15
NM_001287345.1:c.1374del NP_001274274.1:p.Trp458CysfsTer15
NM_000061.3:c.1902del MANE Select NP_000052.1:p.Trp634CysfsTer15
NM_001287344.2:c.2004del NP_001274273.1:p.Trp668CysfsTer15
NM_001287345.2:c.1374del NP_001274274.1:p.Trp458CysfsTer15