Canonical Allele Identifier: CA2580100129

Gene: BTK

Linked Data

• ClinVar Variation Id: 11397
• ClinVar RCV Id: RCV000012150

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353037_101359108del , CM000685.2:g.101353037_101359108del	GRCh38
NC_000023.10:g.100608025_100614096del , CM000685.1:g.100608025_100614096del	GRCh37
NC_000023.9:g.100494681_100500752del	NCBI36
NG_009616.1:g.32123_38194del , LRG_128:g.32123_38194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1054+191_3425+163del
ENST00000488970.2:n.1052+191_4064+163del
ENST00000695614.1:c.894+191_1908+163del
ENST00000695615.1:c.894+191_1908+163del
ENST00000695616.1:c.*739+191_*1753+163del
ENST00000695617.1:c.891+191_1905+163del
ENST00000695618.1:c.*643+191_*1657+163del
ENST00000695619.1:c.*685-665_*1618+163del
ENST00000695620.1:c.*739+191_*1834+163del
ENST00000695621.1:c.894+191_*333+163del
ENST00000695622.1:c.831+191_1845+163del
ENST00000695623.1:c.888+191_1902+163del
ENST00000695624.1:n.199+191_1213+163del
ENST00000695625.1:c.894+191_1875+196del
ENST00000703407.1:c.894+191_1380+163del
ENST00000308731.8:c.894+191_1908+163del
ENST00000308731.7:c.894+191_1908+163del
ENST00000372880.5:c.894+191_1380+163del
ENST00000618050.4:c.894+191_1907+163del
ENST00000621635.4:c.996+191_2010+163del
NM_000061.2:c.894+191_1908+163del , LRG_128t1:c.894+191_1908+163del
NM_001287344.1:c.996+191_2010+163del
NM_001287345.1:c.894+191_1380+163del
NM_000061.3:c.894+191_1908+163del
NM_001287344.2:c.996+191_2010+163del
NM_001287345.2:c.894+191_1380+163del