Canonical Allele Identifier: CA2535907144
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353069_101353070del , CM000685.2:g.101353069_101353070del GRCh38
NC_000023.10:g.100608057_100608058del , CM000685.1:g.100608057_100608058del GRCh37
NC_000023.9:g.100494713_100494714del NCBI36
NG_009616.1:g.38155_38156del , LRG_128:g.38155_38156del
NG_011734.1:g.900_901del

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3425+124_3425+125del
ENST00000488970.2:n.4064+124_4064+125del
ENST00000695614.1:c.1908+124_1908+125del ENSP00000512053.1:n.1908+124_1908+125del
ENST00000695615.1:c.1908+124_1908+125del ENSP00000512054.1:n.1908+124_1908+125del
ENST00000695616.1:c.*1753+124_*1753+125del ENSP00000512055.1:n.*1753+124_*1753+125del
ENST00000695617.1:c.1905+124_1905+125del ENSP00000512056.1:n.1905+124_1905+125del
ENST00000695618.1:c.*1657+124_*1657+125del ENSP00000512058.1:n.*1657+124_*1657+125del
ENST00000695619.1:c.*1618+124_*1618+125del ENSP00000512059.1:n.*1618+124_*1618+125del
ENST00000695620.1:c.*1834+124_*1834+125del ENSP00000512060.1:n.*1834+124_*1834+125del
ENST00000695621.1:c.*333+124_*333+125del ENSP00000512061.1:n.*333+124_*333+125del
ENST00000695622.1:c.1845+124_1845+125del ENSP00000512062.1:n.1845+124_1845+125del
ENST00000695623.1:c.1902+124_1902+125del ENSP00000512063.1:n.1902+124_1902+125del
ENST00000695624.1:n.1213+124_1213+125del
ENST00000695625.1:c.1875+157_1875+158del ENSP00000512064.1:n.1875+157_1875+158del
ENST00000695626.1:c.663+124_663+125del ENSP00000512065.1:n.663+124_663+125del
ENST00000695627.1:c.856+124_856+125del ENSP00000512066.1:n.856+124_856+125del
ENST00000695628.1:c.467+124_467+125del ENSP00000512067.1:n.467+124_467+125del
ENST00000695629.1:c.348+124_348+125del ENSP00000512068.1:n.348+124_348+125del
ENST00000695630.1:c.635+124_635+125del
ENST00000695631.1:c.169+124_169+125del
ENST00000703407.1:c.1380+124_1380+125del ENSP00000512057.1:n.1380+124_1380+125del
ENST00000308731.8:c.1908+124_1908+125del MANE Select ENSP00000308176.8:n.1908+124_1908+125del
ENST00000308731.7:c.1908+124_1908+125del ENSP00000308176.7:n.1908+124_1908+125del
ENST00000372880.5:c.1380+124_1380+125del ENSP00000361971.1:n.1380+124_1380+125del
ENST00000470069.1:n.397_398del
ENST00000618050.4:c.1907+124_1907+125del ENSP00000479125.1:n.1907+124_1907+125del
ENST00000621635.4:c.2010+124_2010+125del ENSP00000483570.1:n.2010+124_2010+125del
NM_000061.2:c.1908+124_1908+125del , LRG_128t1:c.1908+124_1908+125del NP_000052.1:n.1908+124_1908+125del
NM_001287344.1:c.2010+124_2010+125del NP_001274273.1:n.2010+124_2010+125del
NM_001287345.1:c.1380+124_1380+125del NP_001274274.1:n.1380+124_1380+125del
NM_000061.3:c.1908+124_1908+125del MANE Select NP_000052.1:n.1908+124_1908+125del
NM_001287344.2:c.2010+124_2010+125del NP_001274273.1:n.2010+124_2010+125del
NM_001287345.2:c.1380+124_1380+125del NP_001274274.1:n.1380+124_1380+125del