Canonical Allele Identifier: CA2694294461

Gene: BTK

Linked Data

• gnomAD v4: X-101349805-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349807del , CM000685.2:g.101349807del	GRCh38
NC_000023.10:g.100604795del , CM000685.1:g.100604795del	GRCh37
NC_000023.9:g.100491451del	NCBI36
NG_009616.1:g.41419del , LRG_128:g.41419del
NG_011734.1:g.4164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3576del
ENST00000488970.2:n.4215del
ENST00000695614.1:c.*79del	ENSP00000512053.1:n.*79del
ENST00000695615.1:c.*79del	ENSP00000512054.1:n.*79del
ENST00000695616.1:c.*1904del	ENSP00000512055.1:n.*1904del
ENST00000695617.1:c.*79del	ENSP00000512056.1:n.*79del
ENST00000695618.1:c.*1808del	ENSP00000512058.1:n.*1808del
ENST00000695619.1:c.*1769del	ENSP00000512059.1:n.*1769del
ENST00000695620.1:c.*1985del	ENSP00000512060.1:n.*1985del
ENST00000695621.1:c.*484del	ENSP00000512061.1:n.*484del
ENST00000695622.1:c.*79del	ENSP00000512062.1:n.*79del
ENST00000695623.1:c.*79del	ENSP00000512063.1:n.*79del
ENST00000695624.1:n.1364del
ENST00000695625.1:c.*79del	ENSP00000512064.1:n.*79del
ENST00000695626.1:c.814del	ENSP00000512065.1:n.814del
ENST00000695627.1:c.1007del	ENSP00000512066.1:n.1007del
ENST00000695628.1:c.618del	ENSP00000512067.1:n.618del
ENST00000695629.1:c.499del	ENSP00000512068.1:n.499del
ENST00000703407.1:c.*79del	ENSP00000512057.1:n.*79del
ENST00000308731.8:c.*79del MANE Select	ENSP00000308176.8:n.*79del
ENST00000308731.7:c.*79del	ENSP00000308176.7:n.*79del
ENST00000372880.5:c.*79del	ENSP00000361971.1:n.*79del
ENST00000618050.4:c.2058del	ENSP00000479125.1:n.2058del
ENST00000621635.4:c.*79del	ENSP00000483570.1:n.*79del
NM_000061.2:c.*79del , LRG_128t1:c.*79del	NP_000052.1:n.*79del
NM_001287344.1:c.*79del	NP_001274273.1:n.*79del
NM_001287345.1:c.*79del	NP_001274274.1:n.*79del
NM_000061.3:c.*79del MANE Select	NP_000052.1:n.*79del
NM_001287344.2:c.*79del	NP_001274273.1:n.*79del
NM_001287345.2:c.*79del	NP_001274274.1:n.*79del