Canonical Allele Identifier: CA2695235445
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356962_101356963insG , CM000685.2:g.101356962_101356963insG GRCh38
NC_000023.10:g.100611950_100611951insG , CM000685.1:g.100611950_100611951insG GRCh37
NC_000023.9:g.100498606_100498607insG NCBI36
NG_009616.1:g.34262_34263insC , LRG_128:g.34262_34263insC

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.1338-8_1338-7insC
ENST00000488970.2:n.1336-8_1336-7insC
ENST00000695614.1:c.1178-8_1178-7insC ENSP00000512053.1:n.1178-8_1178-7insC
ENST00000695615.1:c.1178-8_1178-7insC ENSP00000512054.1:n.1178-8_1178-7insC
ENST00000695616.1:c.*1023-8_*1023-7insC ENSP00000512055.1:n.*1023-8_*1023-7insC
ENST00000695617.1:c.1175-8_1175-7insC ENSP00000512056.1:n.1175-8_1175-7insC
ENST00000695618.1:c.*927-8_*927-7insC ENSP00000512058.1:n.*927-8_*927-7insC
ENST00000695619.1:c.*888-8_*888-7insC ENSP00000512059.1:n.*888-8_*888-7insC
ENST00000695620.1:c.*1023-8_*1023-7insC ENSP00000512060.1:n.*1023-8_*1023-7insC
ENST00000695621.1:c.1178-8_1178-7insC ENSP00000512061.1:n.1178-8_1178-7insC
ENST00000695622.1:c.1115-8_1115-7insC ENSP00000512062.1:n.1115-8_1115-7insC
ENST00000695623.1:c.1172-8_1172-7insC ENSP00000512063.1:n.1172-8_1172-7insC
ENST00000695624.1:n.483-8_483-7insC
ENST00000695625.1:c.1178-8_1178-7insC ENSP00000512064.1:n.1178-8_1178-7insC
ENST00000695626.1:c.191-49_191-48insC ENSP00000512065.1:n.191-49_191-48insC
ENST00000695627.1:c.191-8_191-7insC ENSP00000512066.1:n.191-8_191-7insC
ENST00000695628.1:c.190+546_190+547insC ENSP00000512067.1:n.190+546_190+547insC
ENST00000695629.1:c.190+546_190+547insC ENSP00000512068.1:n.190+546_190+547insC
ENST00000695630.1:c.187-8_187-7insC
ENST00000695631.1:c.114+1347_114+1348insC
ENST00000695632.1:n.195-8_195-7insC
ENST00000703407.1:c.1038+1411_1038+1412insC ENSP00000512057.1:n.1038+1411_1038+1412insC
ENST00000308731.8:c.1178-8_1178-7insC MANE Select ENSP00000308176.8:n.1178-8_1178-7insC
ENST00000308731.7:c.1178-8_1178-7insC ENSP00000308176.7:n.1178-8_1178-7insC
ENST00000372880.5:c.1038+1411_1038+1412insC ENSP00000361971.1:n.1038+1411_1038+1412insC
ENST00000470329.1:n.128-8_128-7insC
ENST00000618050.4:c.1178-8_1178-7insC ENSP00000479125.1:n.1178-8_1178-7insC
ENST00000621635.4:c.1280-8_1280-7insC ENSP00000483570.1:n.1280-8_1280-7insC
NM_000061.2:c.1178-8_1178-7insC , LRG_128t1:c.1178-8_1178-7insC NP_000052.1:n.1178-8_1178-7insC
NM_001287344.1:c.1280-8_1280-7insC NP_001274273.1:n.1280-8_1280-7insC
NM_001287345.1:c.1038+1411_1038+1412insC NP_001274274.1:n.1038+1411_1038+1412insC
NM_000061.3:c.1178-8_1178-7insC MANE Select NP_000052.1:n.1178-8_1178-7insC
NM_001287344.2:c.1280-8_1280-7insC NP_001274273.1:n.1280-8_1280-7insC
NM_001287345.2:c.1038+1411_1038+1412insC NP_001274274.1:n.1038+1411_1038+1412insC