Canonical Allele Identifier: CA2694291641

Gene: BTK

Linked Data

• gnomAD v4: X-101356959-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356959A>G , CM000685.2:g.101356959A>G	GRCh38
NC_000023.10:g.100611947A>G , CM000685.1:g.100611947A>G	GRCh37
NC_000023.9:g.100498603A>G	NCBI36
NG_009616.1:g.34266T>C , LRG_128:g.34266T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1338-4T>C
ENST00000488970.2:n.1336-4T>C
ENST00000695614.1:c.1178-4T>C	ENSP00000512053.1:n.1178-4T>C
ENST00000695615.1:c.1178-4T>C	ENSP00000512054.1:n.1178-4T>C
ENST00000695616.1:c.*1023-4T>C	ENSP00000512055.1:n.*1023-4T>C
ENST00000695617.1:c.1175-4T>C	ENSP00000512056.1:n.1175-4T>C
ENST00000695618.1:c.*927-4T>C	ENSP00000512058.1:n.*927-4T>C
ENST00000695619.1:c.*888-4T>C	ENSP00000512059.1:n.*888-4T>C
ENST00000695620.1:c.*1023-4T>C	ENSP00000512060.1:n.*1023-4T>C
ENST00000695621.1:c.1178-4T>C	ENSP00000512061.1:n.1178-4T>C
ENST00000695622.1:c.1115-4T>C	ENSP00000512062.1:n.1115-4T>C
ENST00000695623.1:c.1172-4T>C	ENSP00000512063.1:n.1172-4T>C
ENST00000695624.1:n.483-4T>C
ENST00000695625.1:c.1178-4T>C	ENSP00000512064.1:n.1178-4T>C
ENST00000695626.1:c.191-45T>C	ENSP00000512065.1:n.191-45T>C
ENST00000695627.1:c.191-4T>C	ENSP00000512066.1:n.191-4T>C
ENST00000695628.1:c.190+550T>C	ENSP00000512067.1:n.190+550T>C
ENST00000695629.1:c.190+550T>C	ENSP00000512068.1:n.190+550T>C
ENST00000695630.1:c.187-4T>C
ENST00000695631.1:c.114+1351T>C
ENST00000695632.1:n.195-4T>C
ENST00000703407.1:c.1038+1415T>C	ENSP00000512057.1:n.1038+1415T>C
ENST00000308731.8:c.1178-4T>C MANE Select	ENSP00000308176.8:n.1178-4T>C
ENST00000308731.7:c.1178-4T>C	ENSP00000308176.7:n.1178-4T>C
ENST00000372880.5:c.1038+1415T>C	ENSP00000361971.1:n.1038+1415T>C
ENST00000470329.1:n.128-4T>C
ENST00000618050.4:c.1178-4T>C	ENSP00000479125.1:n.1178-4T>C
ENST00000621635.4:c.1280-4T>C	ENSP00000483570.1:n.1280-4T>C
NM_000061.2:c.1178-4T>C , LRG_128t1:c.1178-4T>C	NP_000052.1:n.1178-4T>C
NM_001287344.1:c.1280-4T>C	NP_001274273.1:n.1280-4T>C
NM_001287345.1:c.1038+1415T>C	NP_001274274.1:n.1038+1415T>C
NM_000061.3:c.1178-4T>C MANE Select	NP_000052.1:n.1178-4T>C
NM_001287344.2:c.1280-4T>C	NP_001274273.1:n.1280-4T>C
NM_001287345.2:c.1038+1415T>C	NP_001274274.1:n.1038+1415T>C