Canonical Allele Identifier: CA645605194

Gene: BTK

Linked Data

• COSMIC: COSM6196566

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356175_101356176delinsAG , CM000685.2:g.101356175_101356176delinsAG	GRCh38
NC_000023.10:g.100611163_100611164delinsAG , CM000685.1:g.100611163_100611164delinsAG	GRCh37
NC_000023.9:g.100497819_100497820delinsAG	NCBI36
NG_009616.1:g.35049_35050delinsCT , LRG_128:g.35049_35050delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1602_1603delinsCT
ENST00000488970.2:n.1600_1601delinsCT
ENST00000695614.1:c.1442_1443delinsCT	ENSP00000512053.1:p.Cys481Ser
ENST00000695615.1:c.1442_1443delinsCT	ENSP00000512054.1:p.Cys481Ser
ENST00000695616.1:c.*1287_*1288delinsCT	ENSP00000512055.1:n.*1287_*1288delinsCT
ENST00000695617.1:c.1439_1440delinsCT	ENSP00000512056.1:p.Cys480Ser
ENST00000695618.1:c.*1191_*1192delinsCT	ENSP00000512058.1:n.*1191_*1192delinsCT
ENST00000695619.1:c.*1152_*1153delinsCT	ENSP00000512059.1:n.*1152_*1153delinsCT
ENST00000695620.1:c.*1368_*1369delinsCT	ENSP00000512060.1:n.*1368_*1369delinsCT
ENST00000695621.1:c.1442_1443delinsCT	ENSP00000512061.1:p.Cys481Ser
ENST00000695622.1:c.1379_1380delinsCT	ENSP00000512062.1:p.Cys460Ser
ENST00000695623.1:c.1436_1437delinsCT	ENSP00000512063.1:p.Cys479Ser
ENST00000695624.1:n.747_748delinsCT
ENST00000695625.1:c.1442_1443delinsCT	ENSP00000512064.1:p.Cys481Ser
ENST00000695626.1:c.321+608_321+609delinsCT	ENSP00000512065.1:n.321+608_321+609delinsCT
ENST00000695627.1:c.455_456delinsCT	ENSP00000512066.1:p.Cys152Ser
ENST00000695628.1:c.190+1333_190+1334delinsCT	ENSP00000512067.1:n.190+1333_190+1334delinsCT
ENST00000695629.1:c.190+1333_190+1334delinsCT	ENSP00000512068.1:n.190+1333_190+1334delinsCT
ENST00000695630.1:c.358+608_358+609delinsCT
ENST00000695631.1:c.114+2134_114+2135delinsCT
ENST00000695632.1:n.366+608_366+609delinsCT
ENST00000703407.1:c.1039-1482_1039-1481delinsCT	ENSP00000512057.1:n.1039-1482_1039-1481delinsCT
ENST00000308731.8:c.1442_1443delinsCT MANE Select	ENSP00000308176.8:p.Cys481Ser
ENST00000308731.7:c.1442_1443delinsCT	ENSP00000308176.7:p.Cys481Ser
ENST00000372880.5:c.1039-1482_1039-1481delinsCT	ENSP00000361971.1:n.1039-1482_1039-1481delinsCT
ENST00000478995.1:n.114_115delinsCT
ENST00000618050.4:c.1442_1443delinsCT	ENSP00000479125.1:p.Cys481Ser
ENST00000621635.4:c.1544_1545delinsCT	ENSP00000483570.1:p.Cys515Ser
NM_000061.2:c.1442_1443delinsCT , LRG_128t1:c.1442_1443delinsCT	NP_000052.1:p.Cys481Ser
NM_001287344.1:c.1544_1545delinsCT	NP_001274273.1:p.Cys515Ser
NM_001287345.1:c.1039-1482_1039-1481delinsCT	NP_001274274.1:n.1039-1482_1039-1481delinsCT
NM_000061.3:c.1442_1443delinsCT MANE Select	NP_000052.1:p.Cys481Ser
NM_001287344.2:c.1544_1545delinsCT	NP_001274273.1:p.Cys515Ser
NM_001287345.2:c.1039-1482_1039-1481delinsCT	NP_001274274.1:n.1039-1482_1039-1481delinsCT