Canonical Allele Identifier: CA2573159064

Gene: BTK

Linked Data

• ClinVar Variation Id: 11391
• ClinVar RCV Id: RCV000012144
• dbSNP Id: rs2147423959

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353195_101353196insAAAACT , CM000685.2:g.101353195_101353196insAAAACT	GRCh38
NC_000023.10:g.100608183_100608184insAAAACT , CM000685.1:g.100608183_100608184insAAAACT	GRCh37
NC_000023.9:g.100494839_100494840insAAAACT	NCBI36
NG_009616.1:g.38031_38032insTTTTAG , LRG_128:g.38031_38032insTTTTAG
NG_011734.1:g.776_777insTTTTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3425_3425+1insTTTTAG
ENST00000488970.2:n.4064_4064+1insTTTTAG
ENST00000695614.1:c.1908_1908+1insTTTTAG
ENST00000695615.1:c.1908_1908+1insTTTTAG
ENST00000695616.1:c.*1753_*1753+1insTTTTAG	ENSP00000512055.1:n.*1753_*1753+1insTTTTA...
ENST00000695617.1:c.1905_1905+1insTTTTAG
ENST00000695618.1:c.*1657_*1657+1insTTTTAG	ENSP00000512058.1:n.*1657_*1657+1insTTTTA...
ENST00000695619.1:c.*1618_*1618+1insTTTTAG	ENSP00000512059.1:n.*1618_*1618+1insTTTTA...
ENST00000695620.1:c.*1834_*1834+1insTTTTAG	ENSP00000512060.1:n.*1834_*1834+1insTTTTA...
ENST00000695621.1:c.*333_*333+1insTTTTAG	ENSP00000512061.1:n.*333_*333+1insTTTTAG
ENST00000695622.1:c.1845_1845+1insTTTTAG
ENST00000695623.1:c.1902_1902+1insTTTTAG
ENST00000695624.1:n.1213_1213+1insTTTTAG
ENST00000695625.1:c.1875+33_1875+34insTTTTAG	ENSP00000512064.1:n.1875+33_1875+34insTTT...
ENST00000695626.1:c.663_663+1insTTTTAG	ENSP00000512065.1:n.663_663+1insTTTTAG
ENST00000695627.1:c.856_856+1insTTTTAG	ENSP00000512066.1:n.856_856+1insTTTTAG
ENST00000695628.1:c.467_467+1insTTTTAG	ENSP00000512067.1:n.467_467+1insTTTTAG
ENST00000695629.1:c.348_348+1insTTTTAG
ENST00000695630.1:c.635_635+1insTTTTAG
ENST00000695631.1:c.169_169+1insTTTTAG
ENST00000703407.1:c.1380_1380+1insTTTTAG
ENST00000308731.8:c.1908_1908+1insTTTTAG
ENST00000308731.7:c.1908_1908+1insTTTTAG
ENST00000372880.5:c.1380_1380+1insTTTTAG
ENST00000470069.1:n.273_274insTTTTAG
ENST00000618050.4:c.1907_1907+1insTTTTAG	ENSP00000479125.1:n.1907_1907+1insTTTTAG
ENST00000621635.4:c.2010_2010+1insTTTTAG
NM_000061.2:c.1908_1908+1insTTTTAG , LRG_128t1:c.1908_1908+1insTTTTAG
NM_001287344.1:c.2010_2010+1insTTTTAG
NM_001287345.1:c.1380_1380+1insTTTTAG
NM_000061.3:c.1908_1908+1insTTTTAG
NM_001287344.2:c.2010_2010+1insTTTTAG
NM_001287345.2:c.1380_1380+1insTTTTAG