Canonical Allele Identifier: CA3044590632

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356072_101356074del , CM000685.2:g.101356072_101356074del	GRCh38
NC_000023.10:g.100611060_100611062del , CM000685.1:g.100611060_100611062del	GRCh37
NC_000023.9:g.100497716_100497718del	NCBI36
NG_009616.1:g.35153_35155del , LRG_128:g.35153_35155del

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1546_1548del MANE Select	NP_000052.1:p.Gln516del
ENST00000308731.8:c.1546_1548del MANE Select	ENSP00000308176.8:p.Gln516del
NM_000061.2:c.1546_1548del , LRG_128t1:c.1546_1548del	NP_000052.1:p.Gln516del
NM_001287344.1:c.1648_1650del	NP_001274273.1:p.Gln550del
NM_001287344.2:c.1648_1650del	NP_001274273.1:p.Gln550del
NM_001287345.1:c.1039-1378_1039-1376del	NP_001274274.1:n.1039-1378_1039-1376del
NM_001287345.2:c.1039-1378_1039-1376del	NP_001274274.1:n.1039-1378_1039-1376del
ENST00000308731.7:c.1546_1548del	ENSP00000308176.7:p.Gln516del
ENST00000372880.5:c.1039-1378_1039-1376del	ENSP00000361971.1:n.1039-1378_1039-1376del
ENST00000478995.1:n.218_220del
ENST00000478995.2:n.1706_1708del
ENST00000488970.2:n.1704_1706del
ENST00000618050.4:c.1546_1548del	ENSP00000479125.1:p.Gln516del
ENST00000621635.4:c.1648_1650del	ENSP00000483570.1:p.Gln550del
ENST00000695614.1:c.1546_1548del	ENSP00000512053.1:p.Gln516del
ENST00000695615.1:c.1546_1548del	ENSP00000512054.1:p.Gln516del
ENST00000695616.1:c.*1391_*1393del	ENSP00000512055.1:n.*1391_*1393del
ENST00000695617.1:c.1543_1545del	ENSP00000512056.1:p.Gln515del
ENST00000695618.1:c.*1295_*1297del	ENSP00000512058.1:n.*1295_*1297del
ENST00000695619.1:c.*1256_*1258del	ENSP00000512059.1:n.*1256_*1258del
ENST00000695620.1:c.*1472_*1474del	ENSP00000512060.1:n.*1472_*1474del
ENST00000695621.1:c.1546_1548del	ENSP00000512061.1:p.Gln516del
ENST00000695622.1:c.1483_1485del	ENSP00000512062.1:p.Gln495del
ENST00000695623.1:c.1540_1542del	ENSP00000512063.1:p.Gln514del
ENST00000695624.1:n.851_853del
ENST00000695625.1:c.1546_1548del	ENSP00000512064.1:p.Gln516del
ENST00000695626.1:c.321+712_321+714del	ENSP00000512065.1:n.321+712_321+714del
ENST00000695627.1:c.559_561del	ENSP00000512066.1:p.Gln187del
ENST00000695628.1:c.190+1437_190+1439del	ENSP00000512067.1:n.190+1437_190+1439del
ENST00000695629.1:c.190+1437_190+1439del	ENSP00000512068.1:n.190+1437_190+1439del
ENST00000695630.1:c.358+712_358+714del
ENST00000695631.1:c.114+2238_114+2240del
ENST00000695632.1:n.366+712_366+714del
ENST00000703407.1:c.1039-1378_1039-1376del	ENSP00000512057.1:n.1039-1378_1039-1376del