Canonical Allele Identifier: CA2695235349

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353291_101353292del , CM000685.2:g.101353291_101353292del	GRCh38
NC_000023.10:g.100608279_100608280del , CM000685.1:g.100608279_100608280del	GRCh37
NC_000023.9:g.100494935_100494936del	NCBI36
NG_009616.1:g.37933_37934del , LRG_128:g.37933_37934del
NG_011734.1:g.678_679del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3327_3328del
ENST00000488970.2:n.3966_3967del
ENST00000695614.1:c.1810_1811del	ENSP00000512053.1:p.Ser604Ter
ENST00000695615.1:c.1810_1811del	ENSP00000512054.1:p.Ser604Ter
ENST00000695616.1:c.*1655_*1656del	ENSP00000512055.1:n.*1655_*1656del
ENST00000695617.1:c.1807_1808del	ENSP00000512056.1:p.Ser603Ter
ENST00000695618.1:c.*1559_*1560del	ENSP00000512058.1:n.*1559_*1560del
ENST00000695619.1:c.*1520_*1521del	ENSP00000512059.1:n.*1520_*1521del
ENST00000695620.1:c.*1736_*1737del	ENSP00000512060.1:n.*1736_*1737del
ENST00000695621.1:c.*235_*236del	ENSP00000512061.1:n.*235_*236del
ENST00000695622.1:c.1747_1748del	ENSP00000512062.1:p.Ser583Ter
ENST00000695623.1:c.1804_1805del	ENSP00000512063.1:p.Ser602Ter
ENST00000695624.1:n.1115_1116del
ENST00000695625.1:c.1810_1811del	ENSP00000512064.1:p.Ser604Ter
ENST00000695626.1:c.565_566del	ENSP00000512065.1:n.565_566del
ENST00000695627.1:c.758_759del	ENSP00000512066.1:n.758_759del
ENST00000695628.1:c.369_370del	ENSP00000512067.1:n.369_370del
ENST00000695629.1:c.250_251del	ENSP00000512068.1:p.Ser84Ter
ENST00000695630.1:c.537_538del
ENST00000695631.1:c.115-44_115-43del
ENST00000703407.1:c.1282_1283del	ENSP00000512057.1:p.Ser428Ter
ENST00000308731.8:c.1810_1811del MANE Select	ENSP00000308176.8:p.Ser604Ter
ENST00000308731.7:c.1810_1811del	ENSP00000308176.7:p.Ser604Ter
ENST00000372880.5:c.1282_1283del	ENSP00000361971.1:p.Ser428Ter
ENST00000470069.1:n.175_176del
ENST00000618050.4:c.1809_1810del	ENSP00000479125.1:n.1809_1810del
ENST00000621635.4:c.1912_1913del	ENSP00000483570.1:p.Ser638Ter
NM_000061.2:c.1810_1811del , LRG_128t1:c.1810_1811del	NP_000052.1:p.Ser604Ter
NM_001287344.1:c.1912_1913del	NP_001274273.1:p.Ser638Ter
NM_001287345.1:c.1282_1283del	NP_001274274.1:p.Ser428Ter
NM_000061.3:c.1810_1811del MANE Select	NP_000052.1:p.Ser604Ter
NM_001287344.2:c.1912_1913del	NP_001274273.1:p.Ser638Ter
NM_001287345.2:c.1282_1283del	NP_001274274.1:p.Ser428Ter