Canonical Allele Identifier: CA2694296717

Gene: BTK

Linked Data

• gnomAD v4: X-101355964-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101355970del , CM000685.2:g.101355970del	GRCh38
NC_000023.10:g.100610958del , CM000685.1:g.100610958del	GRCh37
NC_000023.9:g.100497614del	NCBI36
NG_009616.1:g.35260del , LRG_128:g.35260del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1813del
ENST00000488970.2:n.1811del
ENST00000695614.1:c.1566+87del	ENSP00000512053.1:n.1566+87del
ENST00000695615.1:c.1566+87del	ENSP00000512054.1:n.1566+87del
ENST00000695616.1:c.*1411+87del	ENSP00000512055.1:n.*1411+87del
ENST00000695617.1:c.1563+87del	ENSP00000512056.1:n.1563+87del
ENST00000695618.1:c.*1315+87del	ENSP00000512058.1:n.*1315+87del
ENST00000695619.1:c.*1276+87del	ENSP00000512059.1:n.*1276+87del
ENST00000695620.1:c.*1492+87del	ENSP00000512060.1:n.*1492+87del
ENST00000695621.1:c.1566+87del	ENSP00000512061.1:n.1566+87del
ENST00000695622.1:c.1503+87del	ENSP00000512062.1:n.1503+87del
ENST00000695623.1:c.1560+87del	ENSP00000512063.1:n.1560+87del
ENST00000695624.1:n.871+87del
ENST00000695625.1:c.1566+87del	ENSP00000512064.1:n.1566+87del
ENST00000695626.1:c.321+819del	ENSP00000512065.1:n.321+819del
ENST00000695627.1:c.579+87del	ENSP00000512066.1:n.579+87del
ENST00000695628.1:c.190+1544del	ENSP00000512067.1:n.190+1544del
ENST00000695629.1:c.190+1544del	ENSP00000512068.1:n.190+1544del
ENST00000695630.1:c.358+819del
ENST00000695631.1:c.114+2345del
ENST00000695632.1:n.366+819del
ENST00000703407.1:c.1039-1271del	ENSP00000512057.1:n.1039-1271del
ENST00000308731.8:c.1566+87del MANE Select	ENSP00000308176.8:n.1566+87del
ENST00000308731.7:c.1566+87del	ENSP00000308176.7:n.1566+87del
ENST00000372880.5:c.1039-1271del	ENSP00000361971.1:n.1039-1271del
ENST00000478995.1:n.325del
ENST00000618050.4:c.1566+87del	ENSP00000479125.1:n.1566+87del
ENST00000621635.4:c.1668+87del	ENSP00000483570.1:n.1668+87del
NM_000061.2:c.1566+87del , LRG_128t1:c.1566+87del	NP_000052.1:n.1566+87del
NM_001287344.1:c.1668+87del	NP_001274273.1:n.1668+87del
NM_001287345.1:c.1039-1271del	NP_001274274.1:n.1039-1271del
NM_000061.3:c.1566+87del MANE Select	NP_000052.1:n.1566+87del
NM_001287344.2:c.1668+87del	NP_001274273.1:n.1668+87del
NM_001287345.2:c.1039-1271del	NP_001274274.1:n.1039-1271del