Canonical Allele Identifier: CA2448284127
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101357590C= , CM000685.2:g.101357590C= GRCh38
NC_000023.10:g.100612578C= , CM000685.1:g.100612578C= GRCh37
NC_000023.9:g.100499234C= NCBI36
NG_009616.1:g.33635G= , LRG_128:g.33635G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.1263-7G=
ENST00000488970.2:n.1261-7G=
ENST00000695614.1:c.1103-7G= ENSP00000512053.1:n.1103-7G=
ENST00000695615.1:c.1103-7G= ENSP00000512054.1:n.1103-7G=
ENST00000695616.1:c.*948-7G= ENSP00000512055.1:n.*948-7G=
ENST00000695617.1:c.1100-7G= ENSP00000512056.1:n.1100-7G=
ENST00000695618.1:c.*852-7G= ENSP00000512058.1:n.*852-7G=
ENST00000695619.1:c.*813-7G= ENSP00000512059.1:n.*813-7G=
ENST00000695620.1:c.*948-7G= ENSP00000512060.1:n.*948-7G=
ENST00000695621.1:c.1103-7G= ENSP00000512061.1:n.1103-7G=
ENST00000695622.1:c.1040-7G= ENSP00000512062.1:n.1040-7G=
ENST00000695623.1:c.1097-7G= ENSP00000512063.1:n.1097-7G=
ENST00000695624.1:n.408-7G=
ENST00000695625.1:c.1103-7G= ENSP00000512064.1:n.1103-7G=
ENST00000695626.1:c.116-7G= ENSP00000512065.1:n.116-7G=
ENST00000695627.1:c.116-7G= ENSP00000512066.1:n.116-7G=
ENST00000695628.1:c.116-7G= ENSP00000512067.1:n.116-7G=
ENST00000695629.1:c.116-7G= ENSP00000512068.1:n.116-7G=
ENST00000695630.1:c.112-7G=
ENST00000695631.1:c.114+720G=
ENST00000695632.1:n.120-7G=
ENST00000703407.1:c.1038+784G= ENSP00000512057.1:n.1038+784G=
ENST00000308731.8:c.1103-7G= MANE Select ENSP00000308176.8:n.1103-7G=
ENST00000308731.7:c.1103-7G= ENSP00000308176.7:n.1103-7G=
ENST00000372880.5:c.1038+784G= ENSP00000361971.1:n.1038+784G=
ENST00000470329.1:n.53-7G=
ENST00000618050.4:c.1103-7G= ENSP00000479125.1:n.1103-7G=
ENST00000621635.4:c.1205-7G= ENSP00000483570.1:n.1205-7G=
NM_000061.2:c.1103-7G= , LRG_128t1:c.1103-7G= NP_000052.1:n.1103-7G=
NM_001287344.1:c.1205-7G= NP_001274273.1:n.1205-7G=
NM_001287345.1:c.1038+784G= NP_001274274.1:n.1038+784G=
NM_000061.3:c.1103-7G= MANE Select NP_000052.1:n.1103-7G=
NM_001287344.2:c.1205-7G= NP_001274273.1:n.1205-7G=
NM_001287345.2:c.1038+784G= NP_001274274.1:n.1038+784G=