Canonical Allele Identifier: CA2695235432

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356844_101356845del , CM000685.2:g.101356844_101356845del	GRCh38
NC_000023.10:g.100611832_100611833del , CM000685.1:g.100611832_100611833del	GRCh37
NC_000023.9:g.100498488_100498489del	NCBI36
NG_009616.1:g.34380_34381del , LRG_128:g.34380_34381del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1448_1449del
ENST00000488970.2:n.1446_1447del
ENST00000695614.1:c.1288_1289del	ENSP00000512053.1:p.Lys430AspfsTer9
ENST00000695615.1:c.1288_1289del	ENSP00000512054.1:p.Lys430AspfsTer9
ENST00000695616.1:c.*1133_*1134del	ENSP00000512055.1:n.*1133_*1134del
ENST00000695617.1:c.1285_1286del	ENSP00000512056.1:p.Lys429AspfsTer9
ENST00000695618.1:c.*1037_*1038del	ENSP00000512058.1:n.*1037_*1038del
ENST00000695619.1:c.*998_*999del	ENSP00000512059.1:n.*998_*999del
ENST00000695620.1:c.*1133_*1134del	ENSP00000512060.1:n.*1133_*1134del
ENST00000695621.1:c.1288_1289del	ENSP00000512061.1:p.Lys430AspfsTer9
ENST00000695622.1:c.1225_1226del	ENSP00000512062.1:p.Lys409AspfsTer9
ENST00000695623.1:c.1282_1283del	ENSP00000512063.1:p.Lys428AspfsTer9
ENST00000695624.1:n.593_594del
ENST00000695625.1:c.1288_1289del	ENSP00000512064.1:p.Lys430AspfsTer9
ENST00000695626.1:c.260_261del	ENSP00000512065.1:p.Gln87ArgfsTer2
ENST00000695627.1:c.301_302del	ENSP00000512066.1:p.Lys101AspfsTer9
ENST00000695628.1:c.190+664_190+665del	ENSP00000512067.1:n.190+664_190+665del
ENST00000695629.1:c.190+664_190+665del	ENSP00000512068.1:n.190+664_190+665del
ENST00000695630.1:c.297_298del
ENST00000695631.1:c.114+1465_114+1466del
ENST00000695632.1:n.305_306del
ENST00000703407.1:c.1038+1529_1038+1530del	ENSP00000512057.1:n.1038+1529_1038+1530de...
ENST00000308731.8:c.1288_1289del MANE Select	ENSP00000308176.8:p.Lys430AspfsTer9
ENST00000308731.7:c.1288_1289del	ENSP00000308176.7:p.Lys430AspfsTer9
ENST00000372880.5:c.1038+1529_1038+1530del	ENSP00000361971.1:n.1038+1529_1038+1530de...
ENST00000470329.1:n.238_239del
ENST00000618050.4:c.1288_1289del	ENSP00000479125.1:p.Lys430AspfsTer9
ENST00000621635.4:c.1390_1391del	ENSP00000483570.1:p.Lys464AspfsTer9
NM_000061.2:c.1288_1289del , LRG_128t1:c.1288_1289del	NP_000052.1:p.Lys430AspfsTer9
NM_001287344.1:c.1390_1391del	NP_001274273.1:p.Lys464AspfsTer9
NM_001287345.1:c.1038+1529_1038+1530del	NP_001274274.1:n.1038+1529_1038+1530del
NM_000061.3:c.1288_1289del MANE Select	NP_000052.1:p.Lys430AspfsTer9
NM_001287344.2:c.1390_1391del	NP_001274273.1:p.Lys464AspfsTer9
NM_001287345.2:c.1038+1529_1038+1530del	NP_001274274.1:n.1038+1529_1038+1530del