Canonical Allele Identifier: CA2694292090

Gene: BTK

Linked Data

• gnomAD v4: X-101357697-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357699_101357700del , CM000685.2:g.101357699_101357700del	GRCh38
NC_000023.10:g.100612687_100612688del , CM000685.1:g.100612687_100612688del	GRCh37
NC_000023.9:g.100499343_100499344del	NCBI36
NG_009616.1:g.33526_33527del , LRG_128:g.33526_33527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1263-116_1263-115del
ENST00000488970.2:n.1261-116_1261-115del
ENST00000695614.1:c.1103-116_1103-115del	ENSP00000512053.1:n.1103-116_1103-115del
ENST00000695615.1:c.1103-116_1103-115del	ENSP00000512054.1:n.1103-116_1103-115del
ENST00000695616.1:c.*948-116_*948-115del	ENSP00000512055.1:n.*948-116_*948-115del
ENST00000695617.1:c.1100-116_1100-115del	ENSP00000512056.1:n.1100-116_1100-115del
ENST00000695618.1:c.*852-116_*852-115del	ENSP00000512058.1:n.*852-116_*852-115del
ENST00000695619.1:c.*813-116_*813-115del	ENSP00000512059.1:n.*813-116_*813-115del
ENST00000695620.1:c.*948-116_*948-115del	ENSP00000512060.1:n.*948-116_*948-115del
ENST00000695621.1:c.1103-116_1103-115del	ENSP00000512061.1:n.1103-116_1103-115del
ENST00000695622.1:c.1040-116_1040-115del	ENSP00000512062.1:n.1040-116_1040-115del
ENST00000695623.1:c.1097-116_1097-115del	ENSP00000512063.1:n.1097-116_1097-115del
ENST00000695624.1:n.408-116_408-115del
ENST00000695625.1:c.1103-116_1103-115del	ENSP00000512064.1:n.1103-116_1103-115del
ENST00000695626.1:c.116-116_116-115del	ENSP00000512065.1:n.116-116_116-115del
ENST00000695627.1:c.116-116_116-115del	ENSP00000512066.1:n.116-116_116-115del
ENST00000695628.1:c.116-116_116-115del	ENSP00000512067.1:n.116-116_116-115del
ENST00000695629.1:c.116-116_116-115del	ENSP00000512068.1:n.116-116_116-115del
ENST00000695630.1:c.112-116_112-115del
ENST00000695631.1:c.114+611_114+612del
ENST00000695632.1:n.120-116_120-115del
ENST00000703407.1:c.1038+675_1038+676del	ENSP00000512057.1:n.1038+675_1038+676del
ENST00000308731.8:c.1103-116_1103-115del MANE Select	ENSP00000308176.8:n.1103-116_1103-115del
ENST00000308731.7:c.1103-116_1103-115del	ENSP00000308176.7:n.1103-116_1103-115del
ENST00000372880.5:c.1038+675_1038+676del	ENSP00000361971.1:n.1038+675_1038+676del
ENST00000470329.1:n.53-116_53-115del
ENST00000618050.4:c.1103-116_1103-115del	ENSP00000479125.1:n.1103-116_1103-115del
ENST00000621635.4:c.1205-116_1205-115del	ENSP00000483570.1:n.1205-116_1205-115del
NM_000061.2:c.1103-116_1103-115del , LRG_128t1:c.1103-116_1103-115del	NP_000052.1:n.1103-116_1103-115del
NM_001287344.1:c.1205-116_1205-115del	NP_001274273.1:n.1205-116_1205-115del
NM_001287345.1:c.1038+675_1038+676del	NP_001274274.1:n.1038+675_1038+676del
NM_000061.3:c.1103-116_1103-115del MANE Select	NP_000052.1:n.1103-116_1103-115del
NM_001287344.2:c.1205-116_1205-115del	NP_001274273.1:n.1205-116_1205-115del
NM_001287345.2:c.1038+675_1038+676del	NP_001274274.1:n.1038+675_1038+676del