Canonical Allele Identifier: CA2739273639

Gene: BTK

Linked Data

• ClinVar Variation Id: 2807105
• ClinVar RCV Id: RCV003625122

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356844_101356857del , CM000685.2:g.101356844_101356857del	GRCh38
NC_000023.10:g.100611832_100611845del , CM000685.1:g.100611832_100611845del	GRCh37
NC_000023.9:g.100498488_100498501del	NCBI36
NG_009616.1:g.34370_34383del , LRG_128:g.34370_34383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1438_1451del
ENST00000488970.2:n.1436_1449del
ENST00000695614.1:c.1278_1291del	ENSP00000512053.1:p.Val427AspfsTer8
ENST00000695615.1:c.1278_1291del	ENSP00000512054.1:p.Val427AspfsTer8
ENST00000695616.1:c.*1123_*1136del	ENSP00000512055.1:n.*1123_*1136del
ENST00000695617.1:c.1275_1288del	ENSP00000512056.1:p.Val426AspfsTer8
ENST00000695618.1:c.*1027_*1040del	ENSP00000512058.1:n.*1027_*1040del
ENST00000695619.1:c.*988_*1001del	ENSP00000512059.1:n.*988_*1001del
ENST00000695620.1:c.*1123_*1136del	ENSP00000512060.1:n.*1123_*1136del
ENST00000695621.1:c.1278_1291del	ENSP00000512061.1:p.Val427AspfsTer8
ENST00000695622.1:c.1215_1228del	ENSP00000512062.1:p.Val406AspfsTer8
ENST00000695623.1:c.1272_1285del	ENSP00000512063.1:p.Val425AspfsTer8
ENST00000695624.1:n.583_596del
ENST00000695625.1:c.1278_1291del	ENSP00000512064.1:p.Val427AspfsTer8
ENST00000695626.1:c.250_263del	ENSP00000512065.1:p.Arg84Ter
ENST00000695627.1:c.291_304del	ENSP00000512066.1:p.Val98AspfsTer8
ENST00000695628.1:c.190+654_190+667del	ENSP00000512067.1:n.190+654_190+667del
ENST00000695629.1:c.190+654_190+667del	ENSP00000512068.1:n.190+654_190+667del
ENST00000695630.1:c.287_300del
ENST00000695631.1:c.114+1455_114+1468del
ENST00000695632.1:n.295_308del
ENST00000703407.1:c.1038+1519_1038+1532del	ENSP00000512057.1:n.1038+1519_1038+1532de...
ENST00000308731.8:c.1278_1291del MANE Select	ENSP00000308176.8:p.Val427AspfsTer8
ENST00000308731.7:c.1278_1291del	ENSP00000308176.7:p.Val427AspfsTer8
ENST00000372880.5:c.1038+1519_1038+1532del	ENSP00000361971.1:n.1038+1519_1038+1532de...
ENST00000470329.1:n.228_241del
ENST00000618050.4:c.1278_1291del	ENSP00000479125.1:p.Val427AspfsTer8
ENST00000621635.4:c.1380_1393del	ENSP00000483570.1:p.Val461AspfsTer8
NM_000061.2:c.1278_1291del , LRG_128t1:c.1278_1291del	NP_000052.1:p.Val427AspfsTer8
NM_001287344.1:c.1380_1393del	NP_001274273.1:p.Val461AspfsTer8
NM_001287345.1:c.1038+1519_1038+1532del	NP_001274274.1:n.1038+1519_1038+1532del
NM_000061.3:c.1278_1291del MANE Select	NP_000052.1:p.Val427AspfsTer8
NM_001287344.2:c.1380_1393del	NP_001274273.1:p.Val461AspfsTer8
NM_001287345.2:c.1038+1519_1038+1532del	NP_001274274.1:n.1038+1519_1038+1532del