Canonical Allele Identifier: CA869306451

Gene: BTK

Linked Data

• dbSNP Id: rs1450648309
• gnomAD v3: X-101357644-TCCTCACTTAAAG-T
• gnomAD v4: X-101357644-TCCTCACTTAAAG-T
• MyVariant Identifiers: chrX:g.101357645_101357656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357651_101357662del , CM000685.2:g.101357651_101357662del	GRCh38
NC_000023.10:g.100612639_100612650del , CM000685.1:g.100612639_100612650del	GRCh37
NC_000023.9:g.100499295_100499306del	NCBI36
NG_009616.1:g.33569_33580del , LRG_128:g.33569_33580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1263-73_1263-62del
ENST00000488970.2:n.1261-73_1261-62del
ENST00000695614.1:c.1103-73_1103-62del	ENSP00000512053.1:n.1103-73_1103-62del
ENST00000695615.1:c.1103-73_1103-62del	ENSP00000512054.1:n.1103-73_1103-62del
ENST00000695616.1:c.*948-73_*948-62del	ENSP00000512055.1:n.*948-73_*948-62del
ENST00000695617.1:c.1100-73_1100-62del	ENSP00000512056.1:n.1100-73_1100-62del
ENST00000695618.1:c.*852-73_*852-62del	ENSP00000512058.1:n.*852-73_*852-62del
ENST00000695619.1:c.*813-73_*813-62del	ENSP00000512059.1:n.*813-73_*813-62del
ENST00000695620.1:c.*948-73_*948-62del	ENSP00000512060.1:n.*948-73_*948-62del
ENST00000695621.1:c.1103-73_1103-62del	ENSP00000512061.1:n.1103-73_1103-62del
ENST00000695622.1:c.1040-73_1040-62del	ENSP00000512062.1:n.1040-73_1040-62del
ENST00000695623.1:c.1097-73_1097-62del	ENSP00000512063.1:n.1097-73_1097-62del
ENST00000695624.1:n.408-73_408-62del
ENST00000695625.1:c.1103-73_1103-62del	ENSP00000512064.1:n.1103-73_1103-62del
ENST00000695626.1:c.116-73_116-62del	ENSP00000512065.1:n.116-73_116-62del
ENST00000695627.1:c.116-73_116-62del	ENSP00000512066.1:n.116-73_116-62del
ENST00000695628.1:c.116-73_116-62del	ENSP00000512067.1:n.116-73_116-62del
ENST00000695629.1:c.116-73_116-62del	ENSP00000512068.1:n.116-73_116-62del
ENST00000695630.1:c.112-73_112-62del
ENST00000695631.1:c.114+654_114+665del
ENST00000695632.1:n.120-73_120-62del
ENST00000703407.1:c.1038+718_1038+729del	ENSP00000512057.1:n.1038+718_1038+729del
ENST00000308731.8:c.1103-73_1103-62del MANE Select	ENSP00000308176.8:n.1103-73_1103-62del
ENST00000308731.7:c.1103-73_1103-62del	ENSP00000308176.7:n.1103-73_1103-62del
ENST00000372880.5:c.1038+718_1038+729del	ENSP00000361971.1:n.1038+718_1038+729del
ENST00000470329.1:n.53-73_53-62del
ENST00000618050.4:c.1103-73_1103-62del	ENSP00000479125.1:n.1103-73_1103-62del
ENST00000621635.4:c.1205-73_1205-62del	ENSP00000483570.1:n.1205-73_1205-62del
NM_000061.2:c.1103-73_1103-62del , LRG_128t1:c.1103-73_1103-62del	NP_000052.1:n.1103-73_1103-62del
NM_001287344.1:c.1205-73_1205-62del	NP_001274273.1:n.1205-73_1205-62del
NM_001287345.1:c.1038+718_1038+729del	NP_001274274.1:n.1038+718_1038+729del
NM_000061.3:c.1103-73_1103-62del MANE Select	NP_000052.1:n.1103-73_1103-62del
NM_001287344.2:c.1205-73_1205-62del	NP_001274273.1:n.1205-73_1205-62del
NM_001287345.2:c.1038+718_1038+729del	NP_001274274.1:n.1038+718_1038+729del