Canonical Allele Identifier: CA2570172371

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356144_101356148del , CM000685.2:g.101356144_101356148del	GRCh38
NC_000023.10:g.100611132_100611136del , CM000685.1:g.100611132_100611136del	GRCh37
NC_000023.9:g.100497788_100497792del	NCBI36
NG_009616.1:g.35077_35081del , LRG_128:g.35077_35081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1630_1634del
ENST00000488970.2:n.1628_1632del
ENST00000695614.1:c.1470_1474del	ENSP00000512053.1:p.His491LeufsTer15
ENST00000695615.1:c.1470_1474del	ENSP00000512054.1:p.His491LeufsTer15
ENST00000695616.1:c.*1315_*1319del	ENSP00000512055.1:n.*1315_*1319del
ENST00000695617.1:c.1467_1471del	ENSP00000512056.1:p.His490LeufsTer15
ENST00000695618.1:c.*1219_*1223del	ENSP00000512058.1:n.*1219_*1223del
ENST00000695619.1:c.*1180_*1184del	ENSP00000512059.1:n.*1180_*1184del
ENST00000695620.1:c.*1396_*1400del	ENSP00000512060.1:n.*1396_*1400del
ENST00000695621.1:c.1470_1474del	ENSP00000512061.1:p.His491LeufsTer15
ENST00000695622.1:c.1407_1411del	ENSP00000512062.1:p.His470LeufsTer15
ENST00000695623.1:c.1464_1468del	ENSP00000512063.1:p.His489LeufsTer15
ENST00000695624.1:n.775_779del
ENST00000695625.1:c.1470_1474del	ENSP00000512064.1:p.His491LeufsTer15
ENST00000695626.1:c.321+636_321+640del	ENSP00000512065.1:n.321+636_321+640del
ENST00000695627.1:c.483_487del	ENSP00000512066.1:p.His162LeufsTer15
ENST00000695628.1:c.190+1361_190+1365del	ENSP00000512067.1:n.190+1361_190+1365del
ENST00000695629.1:c.190+1361_190+1365del	ENSP00000512068.1:n.190+1361_190+1365del
ENST00000695630.1:c.358+636_358+640del
ENST00000695631.1:c.114+2162_114+2166del
ENST00000695632.1:n.366+636_366+640del
ENST00000703407.1:c.1039-1454_1039-1450del	ENSP00000512057.1:n.1039-1454_1039-1450del
ENST00000308731.8:c.1470_1474del MANE Select	ENSP00000308176.8:p.His491LeufsTer15
ENST00000308731.7:c.1470_1474del	ENSP00000308176.7:p.His491LeufsTer15
ENST00000372880.5:c.1039-1454_1039-1450del	ENSP00000361971.1:n.1039-1454_1039-1450del
ENST00000478995.1:n.142_146del
ENST00000618050.4:c.1470_1474del	ENSP00000479125.1:p.His491LeufsTer15
ENST00000621635.4:c.1572_1576del	ENSP00000483570.1:p.His525LeufsTer15
NM_000061.2:c.1470_1474del , LRG_128t1:c.1470_1474del	NP_000052.1:p.His491LeufsTer15
NM_001287344.1:c.1572_1576del	NP_001274273.1:p.His525LeufsTer15
NM_001287345.1:c.1039-1454_1039-1450del	NP_001274274.1:n.1039-1454_1039-1450del
NM_000061.3:c.1470_1474del MANE Select	NP_000052.1:p.His491LeufsTer15
NM_001287344.2:c.1572_1576del	NP_001274273.1:p.His525LeufsTer15
NM_001287345.2:c.1039-1454_1039-1450del	NP_001274274.1:n.1039-1454_1039-1450del