Canonical Allele Identifier: CA2580100090

Gene: BTK

Linked Data

• ClinVar Variation Id: 1879771
• ClinVar RCV Id: RCV002512416

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101360579_101360588del , CM000685.2:g.101360579_101360588del	GRCh38
NC_000023.10:g.100615567_100615576del , CM000685.1:g.100615567_100615576del	GRCh37
NC_000023.9:g.100502223_100502232del	NCBI36
NG_009616.1:g.30639_30648del , LRG_128:g.30639_30648del

Transcript Alleles

HGVS	Amino-acid change
ENST00000464006.2:n.538_547del
ENST00000478995.2:n.918_927del
ENST00000488970.2:n.916_925del
ENST00000695614.1:c.758_767del	ENSP00000512053.1:p.Arg253IlefsTer21
ENST00000695615.1:c.758_767del	ENSP00000512054.1:p.Arg253IlefsTer21
ENST00000695616.1:c.*603_*612del	ENSP00000512055.1:n.*603_*612del
ENST00000695617.1:c.755_764del	ENSP00000512056.1:p.Arg252IlefsTer21
ENST00000695618.1:c.*507_*516del	ENSP00000512058.1:n.*507_*516del
ENST00000695619.1:c.*603_*612del	ENSP00000512059.1:n.*603_*612del
ENST00000695620.1:c.*603_*612del	ENSP00000512060.1:n.*603_*612del
ENST00000695621.1:c.758_767del	ENSP00000512061.1:p.Arg253IlefsTer21
ENST00000695622.1:c.758_767del	ENSP00000512062.1:p.Arg253IlefsTer10
ENST00000695623.1:c.758_767del	ENSP00000512063.1:p.Arg253IlefsTer21
ENST00000695625.1:c.758_767del	ENSP00000512064.1:p.Arg253IlefsTer21
ENST00000703407.1:c.758_767del	ENSP00000512057.1:p.Arg253IlefsTer21
ENST00000308731.8:c.758_767del MANE Select	ENSP00000308176.8:p.Arg253IlefsTer21
ENST00000308731.7:c.758_767del	ENSP00000308176.7:p.Arg253IlefsTer21
ENST00000372880.5:c.758_767del	ENSP00000361971.1:p.Arg253IlefsTer21
ENST00000618050.4:c.758_767del	ENSP00000479125.1:p.Arg253IlefsTer21
ENST00000621635.4:c.860_869del	ENSP00000483570.1:p.Arg287IlefsTer21
NM_000061.2:c.758_767del , LRG_128t1:c.758_767del	NP_000052.1:p.Arg253IlefsTer21
NM_001287344.1:c.860_869del	NP_001274273.1:p.Arg287IlefsTer21
NM_001287345.1:c.758_767del	NP_001274274.1:p.Arg253IlefsTer21
NM_000061.3:c.758_767del MANE Select	NP_000052.1:p.Arg253IlefsTer21
NM_001287344.2:c.860_869del	NP_001274273.1:p.Arg287IlefsTer21
NM_001287345.2:c.758_767del	NP_001274274.1:p.Arg253IlefsTer21