Canonical Allele Identifier: CA643065488

Gene: BTK

Linked Data

• dbSNP Id: rs1555978035
• gnomAD v2: X-100612605-GGT-G
• gnomAD v4: X-101357617-GGT-G
• MyVariant Identifiers: chrX:g.100612606_100612607del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357620_101357621del , CM000685.2:g.101357620_101357621del	GRCh38
NC_000023.10:g.100612608_100612609del , CM000685.1:g.100612608_100612609del	GRCh37
NC_000023.9:g.100499264_100499265del	NCBI36
NG_009616.1:g.33606_33607del , LRG_128:g.33606_33607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1263-36_1263-35del
ENST00000488970.2:n.1261-36_1261-35del
ENST00000695614.1:c.1103-36_1103-35del	ENSP00000512053.1:n.1103-36_1103-35del
ENST00000695615.1:c.1103-36_1103-35del	ENSP00000512054.1:n.1103-36_1103-35del
ENST00000695616.1:c.*948-36_*948-35del	ENSP00000512055.1:n.*948-36_*948-35del
ENST00000695617.1:c.1100-36_1100-35del	ENSP00000512056.1:n.1100-36_1100-35del
ENST00000695618.1:c.*852-36_*852-35del	ENSP00000512058.1:n.*852-36_*852-35del
ENST00000695619.1:c.*813-36_*813-35del	ENSP00000512059.1:n.*813-36_*813-35del
ENST00000695620.1:c.*948-36_*948-35del	ENSP00000512060.1:n.*948-36_*948-35del
ENST00000695621.1:c.1103-36_1103-35del	ENSP00000512061.1:n.1103-36_1103-35del
ENST00000695622.1:c.1040-36_1040-35del	ENSP00000512062.1:n.1040-36_1040-35del
ENST00000695623.1:c.1097-36_1097-35del	ENSP00000512063.1:n.1097-36_1097-35del
ENST00000695624.1:n.408-36_408-35del
ENST00000695625.1:c.1103-36_1103-35del	ENSP00000512064.1:n.1103-36_1103-35del
ENST00000695626.1:c.116-36_116-35del	ENSP00000512065.1:n.116-36_116-35del
ENST00000695627.1:c.116-36_116-35del	ENSP00000512066.1:n.116-36_116-35del
ENST00000695628.1:c.116-36_116-35del	ENSP00000512067.1:n.116-36_116-35del
ENST00000695629.1:c.116-36_116-35del	ENSP00000512068.1:n.116-36_116-35del
ENST00000695630.1:c.112-36_112-35del
ENST00000695631.1:c.114+691_114+692del
ENST00000695632.1:n.120-36_120-35del
ENST00000703407.1:c.1038+755_1038+756del	ENSP00000512057.1:n.1038+755_1038+756del
ENST00000308731.8:c.1103-36_1103-35del MANE Select	ENSP00000308176.8:n.1103-36_1103-35del
ENST00000308731.7:c.1103-36_1103-35del	ENSP00000308176.7:n.1103-36_1103-35del
ENST00000372880.5:c.1038+755_1038+756del	ENSP00000361971.1:n.1038+755_1038+756del
ENST00000470329.1:n.53-36_53-35del
ENST00000618050.4:c.1103-36_1103-35del	ENSP00000479125.1:n.1103-36_1103-35del
ENST00000621635.4:c.1205-36_1205-35del	ENSP00000483570.1:n.1205-36_1205-35del
NM_000061.2:c.1103-36_1103-35del , LRG_128t1:c.1103-36_1103-35del	NP_000052.1:n.1103-36_1103-35del
NM_001287344.1:c.1205-36_1205-35del	NP_001274273.1:n.1205-36_1205-35del
NM_001287345.1:c.1038+755_1038+756del	NP_001274274.1:n.1038+755_1038+756del
NM_000061.3:c.1103-36_1103-35del MANE Select	NP_000052.1:n.1103-36_1103-35del
NM_001287344.2:c.1205-36_1205-35del	NP_001274273.1:n.1205-36_1205-35del
NM_001287345.2:c.1038+755_1038+756del	NP_001274274.1:n.1038+755_1038+756del