Canonical Allele Identifier: CA2695235496

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359302del , CM000685.2:g.101359302del	GRCh38
NC_000023.10:g.100614290del , CM000685.1:g.100614290del	GRCh37
NC_000023.9:g.100500946del	NCBI36
NG_009616.1:g.31925del , LRG_128:g.31925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.667del
ENST00000478995.2:n.1047del
ENST00000488970.2:n.1045del
ENST00000695614.1:c.887del	ENSP00000512053.1:p.Lys296SerfsTer?
ENST00000695615.1:c.887del	ENSP00000512054.1:p.Lys296SerfsTer?
ENST00000695616.1:c.*732del	ENSP00000512055.1:n.*732del
ENST00000695617.1:c.884del	ENSP00000512056.1:p.Lys295SerfsTer?
ENST00000695618.1:c.*636del	ENSP00000512058.1:n.*636del
ENST00000695619.1:c.*684+788del	ENSP00000512059.1:n.*684+788del
ENST00000695620.1:c.*732del	ENSP00000512060.1:n.*732del
ENST00000695621.1:c.887del	ENSP00000512061.1:p.Lys296SerfsTer?
ENST00000695622.1:c.824del	ENSP00000512062.1:p.Lys275SerfsTer?
ENST00000695623.1:c.881del	ENSP00000512063.1:p.Lys294SerfsTer?
ENST00000695624.1:n.192del
ENST00000695625.1:c.887del	ENSP00000512064.1:p.Lys296SerfsTer?
ENST00000703407.1:c.887del	ENSP00000512057.1:p.Lys296SerfsTer?
ENST00000308731.8:c.887del MANE Select	ENSP00000308176.8:p.Lys296SerfsTer?
ENST00000308731.7:c.887del	ENSP00000308176.7:p.Lys296SerfsTer?
ENST00000372880.5:c.887del	ENSP00000361971.1:p.Lys296SerfsTer?
ENST00000618050.4:c.887del	ENSP00000479125.1:p.Lys296SerfsTer?
ENST00000621635.4:c.989del	ENSP00000483570.1:p.Lys330SerfsTer?
NM_000061.2:c.887del , LRG_128t1:c.887del	NP_000052.1:p.Lys296SerfsTer?
NM_001287344.1:c.989del	NP_001274273.1:p.Lys330SerfsTer?
NM_001287345.1:c.887del	NP_001274274.1:p.Lys296SerfsTer?
NM_000061.3:c.887del MANE Select	NP_000052.1:p.Lys296SerfsTer?
NM_001287344.2:c.989del	NP_001274273.1:p.Lys330SerfsTer?
NM_001287345.2:c.887del	NP_001274274.1:p.Lys296SerfsTer?