Canonical Allele Identifier: CA2695235429

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356793_101356794del , CM000685.2:g.101356793_101356794del	GRCh38
NC_000023.10:g.100611781_100611782del , CM000685.1:g.100611781_100611782del	GRCh37
NC_000023.9:g.100498437_100498438del	NCBI36
NG_009616.1:g.34432_34433del , LRG_128:g.34432_34433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1500_1501del
ENST00000488970.2:n.1498_1499del
ENST00000695614.1:c.1340_1341del	ENSP00000512053.1:p.Lys447SerfsTer8
ENST00000695615.1:c.1340_1341del	ENSP00000512054.1:p.Lys447SerfsTer8
ENST00000695616.1:c.*1185_*1186del	ENSP00000512055.1:n.*1185_*1186del
ENST00000695617.1:c.1337_1338del	ENSP00000512056.1:p.Lys446SerfsTer8
ENST00000695618.1:c.*1089_*1090del	ENSP00000512058.1:n.*1089_*1090del
ENST00000695619.1:c.*1050_*1051del	ENSP00000512059.1:n.*1050_*1051del
ENST00000695620.1:c.*1185_*1186del	ENSP00000512060.1:n.*1185_*1186del
ENST00000695621.1:c.1340_1341del	ENSP00000512061.1:p.Lys447SerfsTer8
ENST00000695622.1:c.1277_1278del	ENSP00000512062.1:p.Lys426SerfsTer8
ENST00000695623.1:c.1334_1335del	ENSP00000512063.1:p.Lys445SerfsTer8
ENST00000695624.1:n.645_646del
ENST00000695625.1:c.1340_1341del	ENSP00000512064.1:p.Lys447SerfsTer8
ENST00000695626.1:c.312_313del	ENSP00000512065.1:n.312_313del
ENST00000695627.1:c.353_354del	ENSP00000512066.1:p.Lys118SerfsTer8
ENST00000695628.1:c.190+716_190+717del	ENSP00000512067.1:n.190+716_190+717del
ENST00000695629.1:c.190+716_190+717del	ENSP00000512068.1:n.190+716_190+717del
ENST00000695630.1:c.349_350del
ENST00000695631.1:c.114+1517_114+1518del
ENST00000695632.1:n.357_358del
ENST00000703407.1:c.1038+1581_1038+1582del	ENSP00000512057.1:n.1038+1581_1038+1582del
ENST00000308731.8:c.1340_1341del MANE Select	ENSP00000308176.8:p.Lys447SerfsTer8
ENST00000308731.7:c.1340_1341del	ENSP00000308176.7:p.Lys447SerfsTer8
ENST00000372880.5:c.1038+1581_1038+1582del	ENSP00000361971.1:n.1038+1581_1038+1582del
ENST00000470329.1:n.290_291del
ENST00000478995.1:n.12_13del
ENST00000618050.4:c.1340_1341del	ENSP00000479125.1:p.Lys447SerfsTer8
ENST00000621635.4:c.1442_1443del	ENSP00000483570.1:p.Lys481SerfsTer8
NM_000061.2:c.1340_1341del , LRG_128t1:c.1340_1341del	NP_000052.1:p.Lys447SerfsTer8
NM_001287344.1:c.1442_1443del	NP_001274273.1:p.Lys481SerfsTer8
NM_001287345.1:c.1038+1581_1038+1582del	NP_001274274.1:n.1038+1581_1038+1582del
NM_000061.3:c.1340_1341del MANE Select	NP_000052.1:p.Lys447SerfsTer8
NM_001287344.2:c.1442_1443del	NP_001274273.1:p.Lys481SerfsTer8
NM_001287345.2:c.1038+1581_1038+1582del	NP_001274274.1:n.1038+1581_1038+1582del