Canonical Allele Identifier: CA2695235407

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356107del , CM000685.2:g.101356107del	GRCh38
NC_000023.10:g.100611095del , CM000685.1:g.100611095del	GRCh37
NC_000023.9:g.100497751del	NCBI36
NG_009616.1:g.35118del , LRG_128:g.35118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1671del
ENST00000488970.2:n.1669del
ENST00000695614.1:c.1511del	ENSP00000512053.1:p.Asp504ValfsTer26
ENST00000695615.1:c.1511del	ENSP00000512054.1:p.Asp504ValfsTer26
ENST00000695616.1:c.*1356del	ENSP00000512055.1:n.*1356del
ENST00000695617.1:c.1508del	ENSP00000512056.1:p.Asp503ValfsTer26
ENST00000695618.1:c.*1260del	ENSP00000512058.1:n.*1260del
ENST00000695619.1:c.*1221del	ENSP00000512059.1:n.*1221del
ENST00000695620.1:c.*1437del	ENSP00000512060.1:n.*1437del
ENST00000695621.1:c.1511del	ENSP00000512061.1:p.Asp504ValfsTer26
ENST00000695622.1:c.1448del	ENSP00000512062.1:p.Asp483ValfsTer26
ENST00000695623.1:c.1505del	ENSP00000512063.1:p.Asp502ValfsTer26
ENST00000695624.1:n.816del
ENST00000695625.1:c.1511del	ENSP00000512064.1:p.Asp504ValfsTer26
ENST00000695626.1:c.321+677del	ENSP00000512065.1:n.321+677del
ENST00000695627.1:c.524del	ENSP00000512066.1:p.Asp175ValfsTer?
ENST00000695628.1:c.190+1402del	ENSP00000512067.1:n.190+1402del
ENST00000695629.1:c.190+1402del	ENSP00000512068.1:n.190+1402del
ENST00000695630.1:c.358+677del
ENST00000695631.1:c.114+2203del
ENST00000695632.1:n.366+677del
ENST00000703407.1:c.1039-1413del	ENSP00000512057.1:n.1039-1413del
ENST00000308731.8:c.1511del MANE Select	ENSP00000308176.8:p.Asp504ValfsTer26
ENST00000308731.7:c.1511del	ENSP00000308176.7:p.Asp504ValfsTer26
ENST00000372880.5:c.1039-1413del	ENSP00000361971.1:n.1039-1413del
ENST00000478995.1:n.183del
ENST00000618050.4:c.1511del	ENSP00000479125.1:p.Asp504ValfsTer26
ENST00000621635.4:c.1613del	ENSP00000483570.1:p.Asp538ValfsTer26
NM_000061.2:c.1511del , LRG_128t1:c.1511del	NP_000052.1:p.Asp504ValfsTer26
NM_001287344.1:c.1613del	NP_001274273.1:p.Asp538ValfsTer26
NM_001287345.1:c.1039-1413del	NP_001274274.1:n.1039-1413del
NM_000061.3:c.1511del MANE Select	NP_000052.1:p.Asp504ValfsTer26
NM_001287344.2:c.1613del	NP_001274273.1:p.Asp538ValfsTer26
NM_001287345.2:c.1039-1413del	NP_001274274.1:n.1039-1413del