Canonical Allele Identifier: CA2579663822

Gene: BTK

Linked Data

• gnomAD v4: X-101349819-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349822_101349823del , CM000685.2:g.101349822_101349823del	GRCh38
NC_000023.10:g.100604810_100604811del , CM000685.1:g.100604810_100604811del	GRCh37
NC_000023.9:g.100491466_100491467del	NCBI36
NG_009616.1:g.41404_41405del , LRG_128:g.41404_41405del
NG_011734.1:g.4149_4150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3561_3562del
ENST00000488970.2:n.4200_4201del
ENST00000695614.1:c.*64_*65del	ENSP00000512053.1:n.*64_*65del
ENST00000695615.1:c.*64_*65del	ENSP00000512054.1:n.*64_*65del
ENST00000695616.1:c.*1889_*1890del	ENSP00000512055.1:n.*1889_*1890del
ENST00000695617.1:c.*64_*65del	ENSP00000512056.1:n.*64_*65del
ENST00000695618.1:c.*1793_*1794del	ENSP00000512058.1:n.*1793_*1794del
ENST00000695619.1:c.*1754_*1755del	ENSP00000512059.1:n.*1754_*1755del
ENST00000695620.1:c.*1970_*1971del	ENSP00000512060.1:n.*1970_*1971del
ENST00000695621.1:c.*469_*470del	ENSP00000512061.1:n.*469_*470del
ENST00000695622.1:c.*64_*65del	ENSP00000512062.1:n.*64_*65del
ENST00000695623.1:c.*64_*65del	ENSP00000512063.1:n.*64_*65del
ENST00000695624.1:n.1349_1350del
ENST00000695625.1:c.*64_*65del	ENSP00000512064.1:n.*64_*65del
ENST00000695626.1:c.799_800del	ENSP00000512065.1:n.799_800del
ENST00000695627.1:c.992_993del	ENSP00000512066.1:n.992_993del
ENST00000695628.1:c.603_604del	ENSP00000512067.1:n.603_604del
ENST00000695629.1:c.484_485del	ENSP00000512068.1:n.484_485del
ENST00000703407.1:c.*64_*65del	ENSP00000512057.1:n.*64_*65del
ENST00000308731.8:c.*64_*65del MANE Select	ENSP00000308176.8:n.*64_*65del
ENST00000308731.7:c.*64_*65del	ENSP00000308176.7:n.*64_*65del
ENST00000372880.5:c.*64_*65del	ENSP00000361971.1:n.*64_*65del
ENST00000618050.4:c.2043_2044del	ENSP00000479125.1:n.2043_2044del
ENST00000621635.4:c.*64_*65del	ENSP00000483570.1:n.*64_*65del
NM_000061.2:c.*64_*65del , LRG_128t1:c.*64_*65del	NP_000052.1:n.*64_*65del
NM_001287344.1:c.*64_*65del	NP_001274273.1:n.*64_*65del
NM_001287345.1:c.*64_*65del	NP_001274274.1:n.*64_*65del
NM_000061.3:c.*64_*65del MANE Select	NP_000052.1:n.*64_*65del
NM_001287344.2:c.*64_*65del	NP_001274273.1:n.*64_*65del
NM_001287345.2:c.*64_*65del	NP_001274274.1:n.*64_*65del