Canonical Allele Identifier: CA2573159074

Gene: BTK

Linked Data

• ClinVar Variation Id: 11372
• ClinVar RCV Id: RCV000012125
• dbSNP Id: rs2147429013

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357556_101357571dup , CM000685.2:g.101357556_101357571dup	GRCh38
NC_000023.10:g.100612544_100612559dup , CM000685.1:g.100612544_100612559dup	GRCh37
NC_000023.9:g.100499200_100499215dup	NCBI36
NG_009616.1:g.33655_33670dup , LRG_128:g.33655_33670dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1276_1291dup
ENST00000488970.2:n.1274_1289dup
ENST00000695614.1:c.1116_1131dup	ENSP00000512053.1:p.Ser378AlafsTer26
ENST00000695615.1:c.1116_1131dup	ENSP00000512054.1:p.Ser378AlafsTer26
ENST00000695616.1:c.*961_*976dup	ENSP00000512055.1:n.*961_*976dup
ENST00000695617.1:c.1113_1128dup	ENSP00000512056.1:p.Ser377AlafsTer26
ENST00000695618.1:c.*865_*880dup	ENSP00000512058.1:n.*865_*880dup
ENST00000695619.1:c.*826_*841dup	ENSP00000512059.1:n.*826_*841dup
ENST00000695620.1:c.*961_*976dup	ENSP00000512060.1:n.*961_*976dup
ENST00000695621.1:c.1116_1131dup	ENSP00000512061.1:p.Ser378AlafsTer26
ENST00000695622.1:c.1053_1068dup	ENSP00000512062.1:p.Ser357AlafsTer26
ENST00000695623.1:c.1110_1125dup	ENSP00000512063.1:p.Ser376AlafsTer26
ENST00000695624.1:n.421_436dup
ENST00000695625.1:c.1116_1131dup	ENSP00000512064.1:p.Ser378AlafsTer26
ENST00000695626.1:c.129_144dup	ENSP00000512065.1:p.Ser49AlafsTer30
ENST00000695627.1:c.129_144dup	ENSP00000512066.1:p.Ser49AlafsTer26
ENST00000695628.1:c.129_144dup	ENSP00000512067.1:p.Ser49AlafsTer?
ENST00000695629.1:c.129_144dup	ENSP00000512068.1:p.Ser49AlafsTer?
ENST00000695630.1:c.125_140dup
ENST00000695631.1:c.114+740_114+755dup
ENST00000695632.1:n.133_148dup
ENST00000703407.1:c.1038+804_1038+819dup	ENSP00000512057.1:n.1038+804_1038+819dup
ENST00000308731.8:c.1116_1131dup MANE Select	ENSP00000308176.8:p.Ser378AlafsTer26
ENST00000308731.7:c.1116_1131dup	ENSP00000308176.7:p.Ser378AlafsTer26
ENST00000372880.5:c.1038+804_1038+819dup	ENSP00000361971.1:n.1038+804_1038+819dup
ENST00000470329.1:n.66_81dup
ENST00000618050.4:c.1116_1131dup	ENSP00000479125.1:p.Ser378AlafsTer26
ENST00000621635.4:c.1218_1233dup	ENSP00000483570.1:p.Ser412AlafsTer26
NM_000061.2:c.1116_1131dup , LRG_128t1:c.1116_1131dup	NP_000052.1:p.Ser378AlafsTer26
NM_001287344.1:c.1218_1233dup	NP_001274273.1:p.Ser412AlafsTer26
NM_001287345.1:c.1038+804_1038+819dup	NP_001274274.1:n.1038+804_1038+819dup
NM_000061.3:c.1116_1131dup MANE Select	NP_000052.1:p.Ser378AlafsTer26
NM_001287344.2:c.1218_1233dup	NP_001274273.1:p.Ser412AlafsTer26
NM_001287345.2:c.1038+804_1038+819dup	NP_001274274.1:n.1038+804_1038+819dup