Canonical Allele Identifier: CA2694294788

Gene: BTK

Linked Data

• gnomAD v4: X-101352934-TGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101352935_101352937del , CM000685.2:g.101352935_101352937del	GRCh38
NC_000023.10:g.100607923_100607925del , CM000685.1:g.100607923_100607925del	GRCh37
NC_000023.9:g.100494579_100494581del	NCBI36
NG_009616.1:g.38288_38290del , LRG_128:g.38288_38290del
NG_011734.1:g.1033_1035del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3425+257_3425+259del
ENST00000488970.2:n.4064+257_4064+259del
ENST00000695614.1:c.1908+257_1908+259del	ENSP00000512053.1:n.1908+257_1908+259del
ENST00000695615.1:c.1908+257_1908+259del	ENSP00000512054.1:n.1908+257_1908+259del
ENST00000695616.1:c.*1753+257_*1753+259del	ENSP00000512055.1:n.*1753+257_*1753+259del
ENST00000695617.1:c.1905+257_1905+259del	ENSP00000512056.1:n.1905+257_1905+259del
ENST00000695618.1:c.*1657+257_*1657+259del	ENSP00000512058.1:n.*1657+257_*1657+259del
ENST00000695619.1:c.*1618+257_*1618+259del	ENSP00000512059.1:n.*1618+257_*1618+259del
ENST00000695620.1:c.*1834+257_*1834+259del	ENSP00000512060.1:n.*1834+257_*1834+259del
ENST00000695621.1:c.*333+257_*333+259del	ENSP00000512061.1:n.*333+257_*333+259del
ENST00000695622.1:c.1845+257_1845+259del	ENSP00000512062.1:n.1845+257_1845+259del
ENST00000695623.1:c.1902+257_1902+259del	ENSP00000512063.1:n.1902+257_1902+259del
ENST00000695624.1:n.1213+257_1213+259del
ENST00000695625.1:c.1875+290_1875+292del	ENSP00000512064.1:n.1875+290_1875+292del
ENST00000695626.1:c.663+257_663+259del	ENSP00000512065.1:n.663+257_663+259del
ENST00000695627.1:c.856+257_856+259del	ENSP00000512066.1:n.856+257_856+259del
ENST00000695628.1:c.467+257_467+259del	ENSP00000512067.1:n.467+257_467+259del
ENST00000695629.1:c.348+257_348+259del	ENSP00000512068.1:n.348+257_348+259del
ENST00000695630.1:c.635+257_635+259del
ENST00000695631.1:c.169+257_169+259del
ENST00000703407.1:c.1380+257_1380+259del	ENSP00000512057.1:n.1380+257_1380+259del
ENST00000308731.8:c.1908+257_1908+259del MANE Select	ENSP00000308176.8:n.1908+257_1908+259del
ENST00000308731.7:c.1908+257_1908+259del	ENSP00000308176.7:n.1908+257_1908+259del
ENST00000372880.5:c.1380+257_1380+259del	ENSP00000361971.1:n.1380+257_1380+259del
ENST00000618050.4:c.1907+257_1907+259del	ENSP00000479125.1:n.1907+257_1907+259del
ENST00000621635.4:c.2010+257_2010+259del	ENSP00000483570.1:n.2010+257_2010+259del
NM_000061.2:c.1908+257_1908+259del , LRG_128t1:c.1908+257_1908+259del	NP_000052.1:n.1908+257_1908+259del
NM_001287344.1:c.2010+257_2010+259del	NP_001274273.1:n.2010+257_2010+259del
NM_001287345.1:c.1380+257_1380+259del	NP_001274274.1:n.1380+257_1380+259del
NM_000061.3:c.1908+257_1908+259del MANE Select	NP_000052.1:n.1908+257_1908+259del
NM_001287344.2:c.2010+257_2010+259del	NP_001274273.1:n.2010+257_2010+259del
NM_001287345.2:c.1380+257_1380+259del	NP_001274274.1:n.1380+257_1380+259del