Canonical Allele Identifier: CA2448283099

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353456_101353458delinsGCT , CM000685.2:g.101353456_101353458delinsGCT	GRCh38
NC_000023.10:g.100608444_100608446delinsGCT , CM000685.1:g.100608444_100608446delinsGCT	GRCh37
NC_000023.9:g.100495100_100495102delinsGCT	NCBI36
NG_009616.1:g.37767_37769delinsAGC , LRG_128:g.37767_37769delinsAGC
NG_011734.1:g.512_514delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3268-107_3268-105delinsAGC
ENST00000488970.2:n.3907-107_3907-105delinsAGC
ENST00000695614.1:c.1751-107_1751-105delinsAGC	ENSP00000512053.1:n.1751-107_1751-105delinsAGC
ENST00000695615.1:c.1751-107_1751-105delinsAGC	ENSP00000512054.1:n.1751-107_1751-105delinsAGC
ENST00000695616.1:c.*1596-107_*1596-105delinsAGC	ENSP00000512055.1:n.*1596-107_*1596-105delinsAGC
ENST00000695617.1:c.1748-107_1748-105delinsAGC	ENSP00000512056.1:n.1748-107_1748-105delinsAGC
ENST00000695618.1:c.*1500-107_*1500-105delinsAGC	ENSP00000512058.1:n.*1500-107_*1500-105delinsAGC
ENST00000695619.1:c.*1461-107_*1461-105delinsAGC	ENSP00000512059.1:n.*1461-107_*1461-105delinsAGC
ENST00000695620.1:c.*1677-107_*1677-105delinsAGC	ENSP00000512060.1:n.*1677-107_*1677-105delinsAGC
ENST00000695621.1:c.*176-107_*176-105delinsAGC	ENSP00000512061.1:n.*176-107_*176-105delinsAGC
ENST00000695622.1:c.1688-107_1688-105delinsAGC	ENSP00000512062.1:n.1688-107_1688-105delinsAGC
ENST00000695623.1:c.1745-107_1745-105delinsAGC	ENSP00000512063.1:n.1745-107_1745-105delinsAGC
ENST00000695624.1:n.1056-107_1056-105delinsAGC
ENST00000695625.1:c.1751-107_1751-105delinsAGC	ENSP00000512064.1:n.1751-107_1751-105delinsAGC
ENST00000695626.1:c.506-107_506-105delinsAGC	ENSP00000512065.1:n.506-107_506-105delinsAGC
ENST00000695627.1:c.699-107_699-105delinsAGC	ENSP00000512066.1:n.699-107_699-105delinsAGC
ENST00000695628.1:c.310-107_310-105delinsAGC	ENSP00000512067.1:n.310-107_310-105delinsAGC
ENST00000695629.1:c.191-107_191-105delinsAGC	ENSP00000512068.1:n.191-107_191-105delinsAGC
ENST00000695630.1:c.478-107_478-105delinsAGC
ENST00000695631.1:c.115-210_115-208delinsAGC
ENST00000703407.1:c.1223-107_1223-105delinsAGC	ENSP00000512057.1:n.1223-107_1223-105delinsAGC
ENST00000308731.8:c.1751-107_1751-105delinsAGC MANE Select	ENSP00000308176.8:n.1751-107_1751-105delinsAGC
ENST00000308731.7:c.1751-107_1751-105delinsAGC	ENSP00000308176.7:n.1751-107_1751-105delinsAGC
ENST00000372880.5:c.1223-107_1223-105delinsAGC	ENSP00000361971.1:n.1223-107_1223-105delinsAGC
ENST00000470069.1:n.116-107_116-105delinsAGC
ENST00000488970.1:n.353-107_353-105delinsAGC
ENST00000618050.4:c.1750-107_1750-105delinsAGC	ENSP00000479125.1:n.1750-107_1750-105delinsAGC
ENST00000621635.4:c.1853-107_1853-105delinsAGC	ENSP00000483570.1:n.1853-107_1853-105delinsAGC
NM_000061.2:c.1751-107_1751-105delinsAGC , LRG_128t1:c.1751-107_1751-105delinsAGC	NP_000052.1:n.1751-107_1751-105delinsAGC
NM_001287344.1:c.1853-107_1853-105delinsAGC	NP_001274273.1:n.1853-107_1853-105delinsAGC
NM_001287345.1:c.1223-107_1223-105delinsAGC	NP_001274274.1:n.1223-107_1223-105delinsAGC
NM_000061.3:c.1751-107_1751-105delinsAGC MANE Select	NP_000052.1:n.1751-107_1751-105delinsAGC
NM_001287344.2:c.1853-107_1853-105delinsAGC	NP_001274273.1:n.1853-107_1853-105delinsAGC
NM_001287345.2:c.1223-107_1223-105delinsAGC	NP_001274274.1:n.1223-107_1223-105delinsAGC