Canonical Allele Identifier: CA1135845174

Gene: BTK

Linked Data

• ClinVar Variation Id: 2889433
• ClinVar RCV Id: RCV003624166
• dbSNP Id: rs1926526121
• gnomAD v3: X-101357590-CAG-C
• gnomAD v4: X-101357590-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357599_101357600del , CM000685.2:g.101357599_101357600del	GRCh38
NC_000023.10:g.100612587_100612588del , CM000685.1:g.100612587_100612588del	GRCh37
NC_000023.9:g.100499243_100499244del	NCBI36
NG_009616.1:g.33633_33634del , LRG_128:g.33633_33634del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1263-9_1263-8del
ENST00000488970.2:n.1261-9_1261-8del
ENST00000695614.1:c.1103-9_1103-8del	ENSP00000512053.1:n.1103-9_1103-8del
ENST00000695615.1:c.1103-9_1103-8del	ENSP00000512054.1:n.1103-9_1103-8del
ENST00000695616.1:c.*948-9_*948-8del	ENSP00000512055.1:n.*948-9_*948-8del
ENST00000695617.1:c.1100-9_1100-8del	ENSP00000512056.1:n.1100-9_1100-8del
ENST00000695618.1:c.*852-9_*852-8del	ENSP00000512058.1:n.*852-9_*852-8del
ENST00000695619.1:c.*813-9_*813-8del	ENSP00000512059.1:n.*813-9_*813-8del
ENST00000695620.1:c.*948-9_*948-8del	ENSP00000512060.1:n.*948-9_*948-8del
ENST00000695621.1:c.1103-9_1103-8del	ENSP00000512061.1:n.1103-9_1103-8del
ENST00000695622.1:c.1040-9_1040-8del	ENSP00000512062.1:n.1040-9_1040-8del
ENST00000695623.1:c.1097-9_1097-8del	ENSP00000512063.1:n.1097-9_1097-8del
ENST00000695624.1:n.408-9_408-8del
ENST00000695625.1:c.1103-9_1103-8del	ENSP00000512064.1:n.1103-9_1103-8del
ENST00000695626.1:c.116-9_116-8del	ENSP00000512065.1:n.116-9_116-8del
ENST00000695627.1:c.116-9_116-8del	ENSP00000512066.1:n.116-9_116-8del
ENST00000695628.1:c.116-9_116-8del	ENSP00000512067.1:n.116-9_116-8del
ENST00000695629.1:c.116-9_116-8del	ENSP00000512068.1:n.116-9_116-8del
ENST00000695630.1:c.112-9_112-8del
ENST00000695631.1:c.114+718_114+719del
ENST00000695632.1:n.120-9_120-8del
ENST00000703407.1:c.1038+782_1038+783del	ENSP00000512057.1:n.1038+782_1038+783del
ENST00000308731.8:c.1103-9_1103-8del MANE Select	ENSP00000308176.8:n.1103-9_1103-8del
ENST00000308731.7:c.1103-9_1103-8del	ENSP00000308176.7:n.1103-9_1103-8del
ENST00000372880.5:c.1038+782_1038+783del	ENSP00000361971.1:n.1038+782_1038+783del
ENST00000470329.1:n.53-9_53-8del
ENST00000618050.4:c.1103-9_1103-8del	ENSP00000479125.1:n.1103-9_1103-8del
ENST00000621635.4:c.1205-9_1205-8del	ENSP00000483570.1:n.1205-9_1205-8del
NM_000061.2:c.1103-9_1103-8del , LRG_128t1:c.1103-9_1103-8del	NP_000052.1:n.1103-9_1103-8del
NM_001287344.1:c.1205-9_1205-8del	NP_001274273.1:n.1205-9_1205-8del
NM_001287345.1:c.1038+782_1038+783del	NP_001274274.1:n.1038+782_1038+783del
NM_000061.3:c.1103-9_1103-8del MANE Select	NP_000052.1:n.1103-9_1103-8del
NM_001287344.2:c.1205-9_1205-8del	NP_001274273.1:n.1205-9_1205-8del
NM_001287345.2:c.1038+782_1038+783del	NP_001274274.1:n.1038+782_1038+783del