Canonical Allele Identifier: CA2522835208

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356131_101356132del , CM000685.2:g.101356131_101356132del	GRCh38
NC_000023.10:g.100611119_100611120del , CM000685.1:g.100611119_100611120del	GRCh37
NC_000023.9:g.100497775_100497776del	NCBI36
NG_009616.1:g.35093_35094del , LRG_128:g.35093_35094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1646_1647del
ENST00000488970.2:n.1644_1645del
ENST00000695614.1:c.1486_1487del	ENSP00000512053.1:p.Gln496AlafsTer11
ENST00000695615.1:c.1486_1487del	ENSP00000512054.1:p.Gln496AlafsTer11
ENST00000695616.1:c.*1331_*1332del	ENSP00000512055.1:n.*1331_*1332del
ENST00000695617.1:c.1483_1484del	ENSP00000512056.1:p.Gln495AlafsTer11
ENST00000695618.1:c.*1235_*1236del	ENSP00000512058.1:n.*1235_*1236del
ENST00000695619.1:c.*1196_*1197del	ENSP00000512059.1:n.*1196_*1197del
ENST00000695620.1:c.*1412_*1413del	ENSP00000512060.1:n.*1412_*1413del
ENST00000695621.1:c.1486_1487del	ENSP00000512061.1:p.Gln496AlafsTer11
ENST00000695622.1:c.1423_1424del	ENSP00000512062.1:p.Gln475AlafsTer11
ENST00000695623.1:c.1480_1481del	ENSP00000512063.1:p.Gln494AlafsTer11
ENST00000695624.1:n.791_792del
ENST00000695625.1:c.1486_1487del	ENSP00000512064.1:p.Gln496AlafsTer11
ENST00000695626.1:c.321+652_321+653del	ENSP00000512065.1:n.321+652_321+653del
ENST00000695627.1:c.499_500del	ENSP00000512066.1:p.Gln167AlafsTer11
ENST00000695628.1:c.190+1377_190+1378del	ENSP00000512067.1:n.190+1377_190+1378del
ENST00000695629.1:c.190+1377_190+1378del	ENSP00000512068.1:n.190+1377_190+1378del
ENST00000695630.1:c.358+652_358+653del
ENST00000695631.1:c.114+2178_114+2179del
ENST00000695632.1:n.366+652_366+653del
ENST00000703407.1:c.1039-1438_1039-1437del	ENSP00000512057.1:n.1039-1438_1039-1437del
ENST00000308731.8:c.1486_1487del MANE Select	ENSP00000308176.8:p.Gln496AlafsTer11
ENST00000308731.7:c.1486_1487del	ENSP00000308176.7:p.Gln496AlafsTer11
ENST00000372880.5:c.1039-1438_1039-1437del	ENSP00000361971.1:n.1039-1438_1039-1437del
ENST00000478995.1:n.158_159del
ENST00000618050.4:c.1486_1487del	ENSP00000479125.1:p.Gln496AlafsTer11
ENST00000621635.4:c.1588_1589del	ENSP00000483570.1:p.Gln530AlafsTer11
NM_000061.2:c.1486_1487del , LRG_128t1:c.1486_1487del	NP_000052.1:p.Gln496AlafsTer11
NM_001287344.1:c.1588_1589del	NP_001274273.1:p.Gln530AlafsTer11
NM_001287345.1:c.1039-1438_1039-1437del	NP_001274274.1:n.1039-1438_1039-1437del
NM_000061.3:c.1486_1487del MANE Select	NP_000052.1:p.Gln496AlafsTer11
NM_001287344.2:c.1588_1589del	NP_001274273.1:p.Gln530AlafsTer11
NM_001287345.2:c.1039-1438_1039-1437del	NP_001274274.1:n.1039-1438_1039-1437del