Canonical Allele Identifier: CA2740097813

Gene: BTK

Linked Data

• ClinVar Variation Id: 3065666
• ClinVar RCV Id: RCV003990743

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356048_101356057del , CM000685.2:g.101356048_101356057del	GRCh38
NC_000023.10:g.100611036_100611045del , CM000685.1:g.100611036_100611045del	GRCh37
NC_000023.9:g.100497692_100497701del	NCBI36
NG_009616.1:g.35173_35182del , LRG_128:g.35173_35182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1726_1735del
ENST00000488970.2:n.1724_1733del
ENST00000695614.1:c.1566_1566+9del
ENST00000695615.1:c.1566_1566+9del
ENST00000695616.1:c.*1411_*1411+9del
ENST00000695617.1:c.1563_1563+9del
ENST00000695618.1:c.*1315_*1315+9del
ENST00000695619.1:c.*1276_*1276+9del
ENST00000695620.1:c.*1492_*1492+9del
ENST00000695621.1:c.1566_1566+9del
ENST00000695622.1:c.1503_1503+9del
ENST00000695623.1:c.1560_1560+9del
ENST00000695624.1:n.871_871+9del
ENST00000695625.1:c.1566_1566+9del
ENST00000695626.1:c.321+732_321+741del	ENSP00000512065.1:n.321+732_321+741del
ENST00000695627.1:c.579_579+9del
ENST00000695628.1:c.190+1457_190+1466del	ENSP00000512067.1:n.190+1457_190+1466del
ENST00000695629.1:c.190+1457_190+1466del	ENSP00000512068.1:n.190+1457_190+1466del
ENST00000695630.1:c.358+732_358+741del
ENST00000695631.1:c.114+2258_114+2267del
ENST00000695632.1:n.366+732_366+741del
ENST00000703407.1:c.1039-1358_1039-1349del	ENSP00000512057.1:n.1039-1358_1039-1349del
ENST00000308731.8:c.1566_1566+9del
ENST00000308731.7:c.1566_1566+9del
ENST00000372880.5:c.1039-1358_1039-1349del	ENSP00000361971.1:n.1039-1358_1039-1349del
ENST00000478995.1:n.238_247del
ENST00000618050.4:c.1566_1566+9del
ENST00000621635.4:c.1668_1668+9del
NM_000061.2:c.1566_1566+9del , LRG_128t1:c.1566_1566+9del
NM_001287344.1:c.1668_1668+9del
NM_001287345.1:c.1039-1358_1039-1349del	NP_001274274.1:n.1039-1358_1039-1349del
NM_000061.3:c.1566_1566+9del
NM_001287344.2:c.1668_1668+9del
NM_001287345.2:c.1039-1358_1039-1349del	NP_001274274.1:n.1039-1358_1039-1349del