Canonical Allele Identifier: CA260192

Gene: BTK

Linked Data

• ClinVar Variation Id: 35759
• ClinVar RCV Id: RCV000029411
• dbSNP Id: rs193922126
• MyVariant Identifiers: chrX:g.100608928_100608935del (hg19) ; chrX:g.101353940_101353947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353944_101353951del , CM000685.2:g.101353944_101353951del	GRCh38
NC_000023.10:g.100608932_100608939del , CM000685.1:g.100608932_100608939del	GRCh37
NC_000023.9:g.100495588_100495595del	NCBI36
NG_009616.1:g.37278_37285del , LRG_128:g.37278_37285del
NG_011734.1:g.23_30del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3190_3197del
ENST00000488970.2:n.3829_3836del
ENST00000695614.1:c.1673_1680del	ENSP00000512053.1:p.Lys558SerfsTer12
ENST00000695615.1:c.1673_1680del	ENSP00000512054.1:p.Lys558SerfsTer12
ENST00000695616.1:c.*1518_*1525del	ENSP00000512055.1:n.*1518_*1525del
ENST00000695617.1:c.1670_1677del	ENSP00000512056.1:p.Lys557SerfsTer12
ENST00000695618.1:c.*1422_*1429del	ENSP00000512058.1:n.*1422_*1429del
ENST00000695619.1:c.*1383_*1390del	ENSP00000512059.1:n.*1383_*1390del
ENST00000695620.1:c.*1599_*1606del	ENSP00000512060.1:n.*1599_*1606del
ENST00000695621.1:c.*98_*105del	ENSP00000512061.1:n.*98_*105del
ENST00000695622.1:c.1610_1617del	ENSP00000512062.1:p.Lys537SerfsTer12
ENST00000695623.1:c.1667_1674del	ENSP00000512063.1:p.Lys556SerfsTer12
ENST00000695624.1:n.978_985del
ENST00000695625.1:c.1673_1680del	ENSP00000512064.1:p.Lys558SerfsTer12
ENST00000695626.1:c.428_435del	ENSP00000512065.1:n.428_435del
ENST00000695627.1:c.621_628del	ENSP00000512066.1:n.621_628del
ENST00000695628.1:c.232_239del	ENSP00000512067.1:n.232_239del
ENST00000695629.1:c.191-596_191-589del	ENSP00000512068.1:n.191-596_191-589del
ENST00000695630.1:c.400_407del
ENST00000695631.1:c.115-699_115-692del
ENST00000695632.1:n.473_480del
ENST00000703407.1:c.1145_1152del	ENSP00000512057.1:p.Lys382SerfsTer12
ENST00000308731.8:c.1673_1680del MANE Select	ENSP00000308176.8:p.Lys558SerfsTer12
ENST00000308731.7:c.1673_1680del	ENSP00000308176.7:p.Lys558SerfsTer12
ENST00000372880.5:c.1145_1152del	ENSP00000361971.1:p.Lys382SerfsTer12
ENST00000470069.1:n.38_45del
ENST00000488970.1:n.275_282del
ENST00000618050.4:c.1673_1680del	ENSP00000479125.1:p.Lys558SerfsTer?
ENST00000621635.4:c.1775_1782del	ENSP00000483570.1:p.Lys592SerfsTer12
NM_000061.2:c.1673_1680del , LRG_128t1:c.1673_1680del	NP_000052.1:p.Lys558SerfsTer12
NM_001287344.1:c.1775_1782del	NP_001274273.1:p.Lys592SerfsTer12
NM_001287345.1:c.1145_1152del	NP_001274274.1:p.Lys382SerfsTer12
NM_000061.3:c.1673_1680del MANE Select	NP_000052.1:p.Lys558SerfsTer12
NM_001287344.2:c.1775_1782del	NP_001274273.1:p.Lys592SerfsTer12
NM_001287345.2:c.1145_1152del	NP_001274274.1:p.Lys382SerfsTer12