Canonical Allele Identifier: CA2822688512
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353471del , CM000685.2:g.101353471del GRCh38
NC_000023.10:g.100608459del , CM000685.1:g.100608459del GRCh37
NC_000023.9:g.100495115del NCBI36
NG_009616.1:g.37754del , LRG_128:g.37754del
NG_011734.1:g.499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3268-120del
ENST00000488970.2:n.3907-120del
ENST00000695614.1:c.1751-120del ENSP00000512053.1:n.1751-120del
ENST00000695615.1:c.1751-120del ENSP00000512054.1:n.1751-120del
ENST00000695616.1:c.*1596-120del ENSP00000512055.1:n.*1596-120del
ENST00000695617.1:c.1748-120del ENSP00000512056.1:n.1748-120del
ENST00000695618.1:c.*1500-120del ENSP00000512058.1:n.*1500-120del
ENST00000695619.1:c.*1461-120del ENSP00000512059.1:n.*1461-120del
ENST00000695620.1:c.*1677-120del ENSP00000512060.1:n.*1677-120del
ENST00000695621.1:c.*176-120del ENSP00000512061.1:n.*176-120del
ENST00000695622.1:c.1688-120del ENSP00000512062.1:n.1688-120del
ENST00000695623.1:c.1745-120del ENSP00000512063.1:n.1745-120del
ENST00000695624.1:n.1056-120del
ENST00000695625.1:c.1751-120del ENSP00000512064.1:n.1751-120del
ENST00000695626.1:c.506-120del ENSP00000512065.1:n.506-120del
ENST00000695627.1:c.699-120del ENSP00000512066.1:n.699-120del
ENST00000695628.1:c.310-120del ENSP00000512067.1:n.310-120del
ENST00000695629.1:c.191-120del ENSP00000512068.1:n.191-120del
ENST00000695630.1:c.478-120del
ENST00000695631.1:c.115-223del
ENST00000703407.1:c.1223-120del ENSP00000512057.1:n.1223-120del
ENST00000308731.8:c.1751-120del MANE Select ENSP00000308176.8:n.1751-120del
ENST00000308731.7:c.1751-120del ENSP00000308176.7:n.1751-120del
ENST00000372880.5:c.1223-120del ENSP00000361971.1:n.1223-120del
ENST00000470069.1:n.116-120del
ENST00000488970.1:n.353-120del
ENST00000618050.4:c.1750-120del ENSP00000479125.1:n.1750-120del
ENST00000621635.4:c.1853-120del ENSP00000483570.1:n.1853-120del
NM_000061.2:c.1751-120del , LRG_128t1:c.1751-120del NP_000052.1:n.1751-120del
NM_001287344.1:c.1853-120del NP_001274273.1:n.1853-120del
NM_001287345.1:c.1223-120del NP_001274274.1:n.1223-120del
NM_000061.3:c.1751-120del MANE Select NP_000052.1:n.1751-120del
NM_001287344.2:c.1853-120del NP_001274273.1:n.1853-120del
NM_001287345.2:c.1223-120del NP_001274274.1:n.1223-120del