Canonical Allele Identifier: CA2694294762

Gene: BTK

Linked Data

• gnomAD v4: X-101352916-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101352917_101352918del , CM000685.2:g.101352917_101352918del	GRCh38
NC_000023.10:g.100607905_100607906del , CM000685.1:g.100607905_100607906del	GRCh37
NC_000023.9:g.100494561_100494562del	NCBI36
NG_009616.1:g.38307_38308del , LRG_128:g.38307_38308del
NG_011734.1:g.1052_1053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3425+276_3425+277del
ENST00000488970.2:n.4064+276_4064+277del
ENST00000695614.1:c.1908+276_1908+277del	ENSP00000512053.1:n.1908+276_1908+277del
ENST00000695615.1:c.1908+276_1908+277del	ENSP00000512054.1:n.1908+276_1908+277del
ENST00000695616.1:c.*1753+276_*1753+277del	ENSP00000512055.1:n.*1753+276_*1753+277del
ENST00000695617.1:c.1905+276_1905+277del	ENSP00000512056.1:n.1905+276_1905+277del
ENST00000695618.1:c.*1657+276_*1657+277del	ENSP00000512058.1:n.*1657+276_*1657+277del
ENST00000695619.1:c.*1618+276_*1618+277del	ENSP00000512059.1:n.*1618+276_*1618+277del
ENST00000695620.1:c.*1834+276_*1834+277del	ENSP00000512060.1:n.*1834+276_*1834+277del
ENST00000695621.1:c.*333+276_*333+277del	ENSP00000512061.1:n.*333+276_*333+277del
ENST00000695622.1:c.1845+276_1845+277del	ENSP00000512062.1:n.1845+276_1845+277del
ENST00000695623.1:c.1902+276_1902+277del	ENSP00000512063.1:n.1902+276_1902+277del
ENST00000695624.1:n.1213+276_1213+277del
ENST00000695625.1:c.1875+309_1875+310del	ENSP00000512064.1:n.1875+309_1875+310del
ENST00000695626.1:c.663+276_663+277del	ENSP00000512065.1:n.663+276_663+277del
ENST00000695627.1:c.856+276_856+277del	ENSP00000512066.1:n.856+276_856+277del
ENST00000695628.1:c.467+276_467+277del	ENSP00000512067.1:n.467+276_467+277del
ENST00000695629.1:c.348+276_348+277del	ENSP00000512068.1:n.348+276_348+277del
ENST00000695630.1:c.635+276_635+277del
ENST00000695631.1:c.169+276_169+277del
ENST00000703407.1:c.1380+276_1380+277del	ENSP00000512057.1:n.1380+276_1380+277del
ENST00000308731.8:c.1908+276_1908+277del MANE Select	ENSP00000308176.8:n.1908+276_1908+277del
ENST00000308731.7:c.1908+276_1908+277del	ENSP00000308176.7:n.1908+276_1908+277del
ENST00000372880.5:c.1380+276_1380+277del	ENSP00000361971.1:n.1380+276_1380+277del
ENST00000618050.4:c.1907+276_1907+277del	ENSP00000479125.1:n.1907+276_1907+277del
ENST00000621635.4:c.2010+276_2010+277del	ENSP00000483570.1:n.2010+276_2010+277del
NM_000061.2:c.1908+276_1908+277del , LRG_128t1:c.1908+276_1908+277del	NP_000052.1:n.1908+276_1908+277del
NM_001287344.1:c.2010+276_2010+277del	NP_001274273.1:n.2010+276_2010+277del
NM_001287345.1:c.1380+276_1380+277del	NP_001274274.1:n.1380+276_1380+277del
NM_000061.3:c.1908+276_1908+277del MANE Select	NP_000052.1:n.1908+276_1908+277del
NM_001287344.2:c.2010+276_2010+277del	NP_001274273.1:n.2010+276_2010+277del
NM_001287345.2:c.1380+276_1380+277del	NP_001274274.1:n.1380+276_1380+277del