Canonical Allele Identifier: CA2528122235

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353646_101353647insGAATACTGTT , CM000685.2:g.101353646_101353647insGAATACTGTT	GRCh38
NC_000023.10:g.100608634_100608635insGAATACTGTT , CM000685.1:g.100608634_100608635insGAATACTGTT	GRCh37
NC_000023.9:g.100495290_100495291insGAATACTGTT	NCBI36
NG_009616.1:g.37579_37580insACAGTATTCA , LRG_128:g.37579_37580insACAGTATTCA
NG_011734.1:g.324_325insACAGTATTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3267+224_3267+225insACAGTATTCA
ENST00000488970.2:n.3906+224_3906+225insACAGTATTCA
ENST00000695614.1:c.1750+224_1750+225insACAGTATTCA	ENSP00000512053.1:n.1750+224_1750+225insACAGTATTCA
ENST00000695615.1:c.1750+224_1750+225insACAGTATTCA	ENSP00000512054.1:n.1750+224_1750+225insACAGTATTCA
ENST00000695616.1:c.*1595+224_*1595+225insACAGTATTCA	ENSP00000512055.1:n.*1595+224_*1595+225insACAGTATTCA
ENST00000695617.1:c.1747+224_1747+225insACAGTATTCA	ENSP00000512056.1:n.1747+224_1747+225insACAGTATTCA
ENST00000695618.1:c.*1499+224_*1499+225insACAGTATTCA	ENSP00000512058.1:n.*1499+224_*1499+225insACAGTATTCA
ENST00000695619.1:c.*1460+224_*1460+225insACAGTATTCA	ENSP00000512059.1:n.*1460+224_*1460+225insACAGTATTCA
ENST00000695620.1:c.*1676+224_*1676+225insACAGTATTCA	ENSP00000512060.1:n.*1676+224_*1676+225insACAGTATTCA
ENST00000695621.1:c.*175+224_*175+225insACAGTATTCA	ENSP00000512061.1:n.*175+224_*175+225insACAGTATTCA
ENST00000695622.1:c.1687+224_1687+225insACAGTATTCA	ENSP00000512062.1:n.1687+224_1687+225insACAGTATTCA
ENST00000695623.1:c.1744+224_1744+225insACAGTATTCA	ENSP00000512063.1:n.1744+224_1744+225insACAGTATTCA
ENST00000695624.1:n.1055+224_1055+225insACAGTATTCA
ENST00000695625.1:c.1750+224_1750+225insACAGTATTCA	ENSP00000512064.1:n.1750+224_1750+225insACAGTATTCA
ENST00000695626.1:c.505+224_505+225insACAGTATTCA	ENSP00000512065.1:n.505+224_505+225insACAGTATTCA
ENST00000695627.1:c.698+224_698+225insACAGTATTCA	ENSP00000512066.1:n.698+224_698+225insACAGTATTCA
ENST00000695628.1:c.309+224_309+225insACAGTATTCA	ENSP00000512067.1:n.309+224_309+225insACAGTATTCA
ENST00000695629.1:c.191-295_191-294insACAGTATTCA	ENSP00000512068.1:n.191-295_191-294insACAGTATTCA
ENST00000695630.1:c.477+224_477+225insACAGTATTCA
ENST00000695631.1:c.115-398_115-397insACAGTATTCA
ENST00000703407.1:c.1222+224_1222+225insACAGTATTCA	ENSP00000512057.1:n.1222+224_1222+225insACAGTATTCA
ENST00000308731.8:c.1750+224_1750+225insACAGTATTCA MANE Select	ENSP00000308176.8:n.1750+224_1750+225insACAGTATTCA
ENST00000308731.7:c.1750+224_1750+225insACAGTATTCA	ENSP00000308176.7:n.1750+224_1750+225insACAGTATTCA
ENST00000372880.5:c.1222+224_1222+225insACAGTATTCA	ENSP00000361971.1:n.1222+224_1222+225insACAGTATTCA
ENST00000470069.1:n.115+224_115+225insACAGTATTCA
ENST00000488970.1:n.352+224_352+225insACAGTATTCA
ENST00000618050.4:c.1749+224_1749+225insACAGTATTCA	ENSP00000479125.1:n.1749+224_1749+225insACAGTATTCA
ENST00000621635.4:c.1852+224_1852+225insACAGTATTCA	ENSP00000483570.1:n.1852+224_1852+225insACAGTATTCA
NM_000061.2:c.1750+224_1750+225insACAGTATTCA , LRG_128t1:c.1750+224_1750+225insACAGTATTCA	NP_000052.1:n.1750+224_1750+225insACAGTATTCA
NM_001287344.1:c.1852+224_1852+225insACAGTATTCA	NP_001274273.1:n.1852+224_1852+225insACAGTATTCA
NM_001287345.1:c.1222+224_1222+225insACAGTATTCA	NP_001274274.1:n.1222+224_1222+225insACAGTATTCA
NM_000061.3:c.1750+224_1750+225insACAGTATTCA MANE Select	NP_000052.1:n.1750+224_1750+225insACAGTATTCA
NM_001287344.2:c.1852+224_1852+225insACAGTATTCA	NP_001274273.1:n.1852+224_1852+225insACAGTATTCA
NM_001287345.2:c.1222+224_1222+225insACAGTATTCA	NP_001274274.1:n.1222+224_1222+225insACAGTATTCA