Canonical Allele Identifier: CA2580100133

Gene: BTK

Linked Data

• ClinVar Variation Id: 2043682
• ClinVar RCV Id: RCV002913174

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353342_101353352del , CM000685.2:g.101353342_101353352del	GRCh38
NC_000023.10:g.100608330_100608340del , CM000685.1:g.100608330_100608340del	GRCh37
NC_000023.9:g.100494986_100494996del	NCBI36
NG_009616.1:g.37874_37884del , LRG_128:g.37874_37884del
NG_011734.1:g.619_629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3268_3278del
ENST00000488970.2:n.3907_3917del
ENST00000695614.1:c.1751_1761del
ENST00000695615.1:c.1751_1761del
ENST00000695616.1:c.*1596_*1606del
ENST00000695617.1:c.1748_1758del
ENST00000695618.1:c.*1500_*1510del
ENST00000695619.1:c.*1461_*1471del
ENST00000695620.1:c.*1677_*1687del
ENST00000695621.1:c.*176_*186del
ENST00000695622.1:c.1688_1698del
ENST00000695623.1:c.1745_1755del
ENST00000695624.1:n.1056_1066del
ENST00000695625.1:c.1751_1761del
ENST00000695626.1:c.506_516del
ENST00000695627.1:c.699_709del
ENST00000695628.1:c.310_320del
ENST00000695629.1:c.191_201del
ENST00000695630.1:c.478_488del
ENST00000695631.1:c.115-103_115-93del
ENST00000703407.1:c.1223_1233del
ENST00000308731.8:c.1751_1761del
ENST00000308731.7:c.1751_1761del
ENST00000372880.5:c.1223_1233del
ENST00000470069.1:n.116_126del
ENST00000488970.1:n.353_363del
ENST00000618050.4:c.1750_1760del
ENST00000621635.4:c.1853_1863del
NM_000061.2:c.1751_1761del , LRG_128t1:c.1751_1761del
NM_001287344.1:c.1853_1863del
NM_001287345.1:c.1223_1233del
NM_000061.3:c.1751_1761del
NM_001287344.2:c.1853_1863del
NM_001287345.2:c.1223_1233del