Canonical Allele Identifier: CA2822685211

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349802_101349803del , CM000685.2:g.101349802_101349803del	GRCh38
NC_000023.10:g.100604790_100604791del , CM000685.1:g.100604790_100604791del	GRCh37
NC_000023.9:g.100491446_100491447del	NCBI36
NG_009616.1:g.41423_41424del , LRG_128:g.41423_41424del
NG_011734.1:g.4168_4169del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3580_3581del
ENST00000488970.2:n.4219_4220del
ENST00000695614.1:c.*83_*84del	ENSP00000512053.1:n.*83_*84del
ENST00000695615.1:c.*83_*84del	ENSP00000512054.1:n.*83_*84del
ENST00000695616.1:c.*1908_*1909del	ENSP00000512055.1:n.*1908_*1909del
ENST00000695617.1:c.*83_*84del	ENSP00000512056.1:n.*83_*84del
ENST00000695618.1:c.*1812_*1813del	ENSP00000512058.1:n.*1812_*1813del
ENST00000695619.1:c.*1773_*1774del	ENSP00000512059.1:n.*1773_*1774del
ENST00000695620.1:c.*1989_*1990del	ENSP00000512060.1:n.*1989_*1990del
ENST00000695621.1:c.*488_*489del	ENSP00000512061.1:n.*488_*489del
ENST00000695622.1:c.*83_*84del	ENSP00000512062.1:n.*83_*84del
ENST00000695623.1:c.*83_*84del	ENSP00000512063.1:n.*83_*84del
ENST00000695624.1:n.1368_1369del
ENST00000695625.1:c.*83_*84del	ENSP00000512064.1:n.*83_*84del
ENST00000703407.1:c.*83_*84del	ENSP00000512057.1:n.*83_*84del
ENST00000308731.8:c.*83_*84del MANE Select	ENSP00000308176.8:n.*83_*84del
ENST00000308731.7:c.*83_*84del	ENSP00000308176.7:n.*83_*84del
ENST00000372880.5:c.*83_*84del	ENSP00000361971.1:n.*83_*84del
ENST00000618050.4:c.2062_2063del	ENSP00000479125.1:n.2062_2063del
ENST00000621635.4:c.*83_*84del	ENSP00000483570.1:n.*83_*84del
NM_000061.2:c.*83_*84del , LRG_128t1:c.*83_*84del	NP_000052.1:n.*83_*84del
NM_001287344.1:c.*83_*84del	NP_001274273.1:n.*83_*84del
NM_001287345.1:c.*83_*84del	NP_001274274.1:n.*83_*84del
NM_000061.3:c.*83_*84del MANE Select	NP_000052.1:n.*83_*84del
NM_001287344.2:c.*83_*84del	NP_001274273.1:n.*83_*84del
NM_001287345.2:c.*83_*84del	NP_001274274.1:n.*83_*84del