Canonical Allele Identifier: CA1135843966

Gene: BTK

Linked Data

• gnomAD v3: X-101352897-AC-A
• gnomAD v4: X-101352897-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101352899del , CM000685.2:g.101352899del	GRCh38
NC_000023.10:g.100607887del , CM000685.1:g.100607887del	GRCh37
NC_000023.9:g.100494543del	NCBI36
NG_009616.1:g.38327del , LRG_128:g.38327del
NG_011734.1:g.1072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3425+296del
ENST00000488970.2:n.4064+296del
ENST00000695614.1:c.1908+296del	ENSP00000512053.1:n.1908+296del
ENST00000695615.1:c.1908+296del	ENSP00000512054.1:n.1908+296del
ENST00000695616.1:c.*1753+296del	ENSP00000512055.1:n.*1753+296del
ENST00000695617.1:c.1905+296del	ENSP00000512056.1:n.1905+296del
ENST00000695618.1:c.*1657+296del	ENSP00000512058.1:n.*1657+296del
ENST00000695619.1:c.*1618+296del	ENSP00000512059.1:n.*1618+296del
ENST00000695620.1:c.*1834+296del	ENSP00000512060.1:n.*1834+296del
ENST00000695621.1:c.*333+296del	ENSP00000512061.1:n.*333+296del
ENST00000695622.1:c.1845+296del	ENSP00000512062.1:n.1845+296del
ENST00000695623.1:c.1902+296del	ENSP00000512063.1:n.1902+296del
ENST00000695624.1:n.1213+296del
ENST00000695625.1:c.1875+329del	ENSP00000512064.1:n.1875+329del
ENST00000695626.1:c.663+296del	ENSP00000512065.1:n.663+296del
ENST00000695627.1:c.856+296del	ENSP00000512066.1:n.856+296del
ENST00000695628.1:c.467+296del	ENSP00000512067.1:n.467+296del
ENST00000695629.1:c.348+296del	ENSP00000512068.1:n.348+296del
ENST00000695630.1:c.635+296del
ENST00000695631.1:c.169+296del
ENST00000703407.1:c.1380+296del	ENSP00000512057.1:n.1380+296del
ENST00000308731.8:c.1908+296del MANE Select	ENSP00000308176.8:n.1908+296del
ENST00000308731.7:c.1908+296del	ENSP00000308176.7:n.1908+296del
ENST00000372880.5:c.1380+296del	ENSP00000361971.1:n.1380+296del
ENST00000618050.4:c.1907+296del	ENSP00000479125.1:n.1907+296del
ENST00000621635.4:c.2010+296del	ENSP00000483570.1:n.2010+296del
NM_000061.2:c.1908+296del , LRG_128t1:c.1908+296del	NP_000052.1:n.1908+296del
NM_001287344.1:c.2010+296del	NP_001274273.1:n.2010+296del
NM_001287345.1:c.1380+296del	NP_001274274.1:n.1380+296del
NM_000061.3:c.1908+296del MANE Select	NP_000052.1:n.1908+296del
NM_001287344.2:c.2010+296del	NP_001274273.1:n.2010+296del
NM_001287345.2:c.1380+296del	NP_001274274.1:n.1380+296del