Canonical Allele Identifier: CA1135844107

Gene: BTK

Linked Data

• gnomAD v3: X-101353084-AAG-A
• gnomAD v4: X-101353084-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353085_101353086del , CM000685.2:g.101353085_101353086del	GRCh38
NC_000023.10:g.100608073_100608074del , CM000685.1:g.100608073_100608074del	GRCh37
NC_000023.9:g.100494729_100494730del	NCBI36
NG_009616.1:g.38139_38140del , LRG_128:g.38139_38140del
NG_011734.1:g.884_885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3425+108_3425+109del
ENST00000488970.2:n.4064+108_4064+109del
ENST00000695614.1:c.1908+108_1908+109del	ENSP00000512053.1:n.1908+108_1908+109del
ENST00000695615.1:c.1908+108_1908+109del	ENSP00000512054.1:n.1908+108_1908+109del
ENST00000695616.1:c.*1753+108_*1753+109del	ENSP00000512055.1:n.*1753+108_*1753+109del
ENST00000695617.1:c.1905+108_1905+109del	ENSP00000512056.1:n.1905+108_1905+109del
ENST00000695618.1:c.*1657+108_*1657+109del	ENSP00000512058.1:n.*1657+108_*1657+109del
ENST00000695619.1:c.*1618+108_*1618+109del	ENSP00000512059.1:n.*1618+108_*1618+109del
ENST00000695620.1:c.*1834+108_*1834+109del	ENSP00000512060.1:n.*1834+108_*1834+109del
ENST00000695621.1:c.*333+108_*333+109del	ENSP00000512061.1:n.*333+108_*333+109del
ENST00000695622.1:c.1845+108_1845+109del	ENSP00000512062.1:n.1845+108_1845+109del
ENST00000695623.1:c.1902+108_1902+109del	ENSP00000512063.1:n.1902+108_1902+109del
ENST00000695624.1:n.1213+108_1213+109del
ENST00000695625.1:c.1875+141_1875+142del	ENSP00000512064.1:n.1875+141_1875+142del
ENST00000695626.1:c.663+108_663+109del	ENSP00000512065.1:n.663+108_663+109del
ENST00000695627.1:c.856+108_856+109del	ENSP00000512066.1:n.856+108_856+109del
ENST00000695628.1:c.467+108_467+109del	ENSP00000512067.1:n.467+108_467+109del
ENST00000695629.1:c.348+108_348+109del	ENSP00000512068.1:n.348+108_348+109del
ENST00000695630.1:c.635+108_635+109del
ENST00000695631.1:c.169+108_169+109del
ENST00000703407.1:c.1380+108_1380+109del	ENSP00000512057.1:n.1380+108_1380+109del
ENST00000308731.8:c.1908+108_1908+109del MANE Select	ENSP00000308176.8:n.1908+108_1908+109del
ENST00000308731.7:c.1908+108_1908+109del	ENSP00000308176.7:n.1908+108_1908+109del
ENST00000372880.5:c.1380+108_1380+109del	ENSP00000361971.1:n.1380+108_1380+109del
ENST00000470069.1:n.381_382del
ENST00000618050.4:c.1907+108_1907+109del	ENSP00000479125.1:n.1907+108_1907+109del
ENST00000621635.4:c.2010+108_2010+109del	ENSP00000483570.1:n.2010+108_2010+109del
NM_000061.2:c.1908+108_1908+109del , LRG_128t1:c.1908+108_1908+109del	NP_000052.1:n.1908+108_1908+109del
NM_001287344.1:c.2010+108_2010+109del	NP_001274273.1:n.2010+108_2010+109del
NM_001287345.1:c.1380+108_1380+109del	NP_001274274.1:n.1380+108_1380+109del
NM_000061.3:c.1908+108_1908+109del MANE Select	NP_000052.1:n.1908+108_1908+109del
NM_001287344.2:c.2010+108_2010+109del	NP_001274273.1:n.2010+108_2010+109del
NM_001287345.2:c.1380+108_1380+109del	NP_001274274.1:n.1380+108_1380+109del