Canonical Allele Identifier: CA10473035

Gene: BTK

Linked Data

• dbSNP Id: rs782103814
• ExAC: X:100611955 GTCT / G
• gnomAD v2: X-100611955-GTCT-G
• gnomAD v4: X-101356967-GTCT-G
• MyVariant Identifiers: chrX:g.100611956_100611958del (hg19) ; chrX:g.101356968_101356970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356969_101356971del , CM000685.2:g.101356969_101356971del	GRCh38
NC_000023.10:g.100611957_100611959del , CM000685.1:g.100611957_100611959del	GRCh37
NC_000023.9:g.100498613_100498615del	NCBI36
NG_009616.1:g.34255_34257del , LRG_128:g.34255_34257del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1338-15_1338-13del
ENST00000488970.2:n.1336-15_1336-13del
ENST00000695614.1:c.1178-15_1178-13del	ENSP00000512053.1:n.1178-15_1178-13del
ENST00000695615.1:c.1178-15_1178-13del	ENSP00000512054.1:n.1178-15_1178-13del
ENST00000695616.1:c.*1023-15_*1023-13del	ENSP00000512055.1:n.*1023-15_*1023-13del
ENST00000695617.1:c.1175-15_1175-13del	ENSP00000512056.1:n.1175-15_1175-13del
ENST00000695618.1:c.*927-15_*927-13del	ENSP00000512058.1:n.*927-15_*927-13del
ENST00000695619.1:c.*888-15_*888-13del	ENSP00000512059.1:n.*888-15_*888-13del
ENST00000695620.1:c.*1023-15_*1023-13del	ENSP00000512060.1:n.*1023-15_*1023-13del
ENST00000695621.1:c.1178-15_1178-13del	ENSP00000512061.1:n.1178-15_1178-13del
ENST00000695622.1:c.1115-15_1115-13del	ENSP00000512062.1:n.1115-15_1115-13del
ENST00000695623.1:c.1172-15_1172-13del	ENSP00000512063.1:n.1172-15_1172-13del
ENST00000695624.1:n.483-15_483-13del
ENST00000695625.1:c.1178-15_1178-13del	ENSP00000512064.1:n.1178-15_1178-13del
ENST00000695626.1:c.191-56_191-54del	ENSP00000512065.1:n.191-56_191-54del
ENST00000695627.1:c.191-15_191-13del	ENSP00000512066.1:n.191-15_191-13del
ENST00000695628.1:c.190+539_190+541del	ENSP00000512067.1:n.190+539_190+541del
ENST00000695629.1:c.190+539_190+541del	ENSP00000512068.1:n.190+539_190+541del
ENST00000695630.1:c.187-15_187-13del
ENST00000695631.1:c.114+1340_114+1342del
ENST00000695632.1:n.195-15_195-13del
ENST00000703407.1:c.1038+1404_1038+1406del	ENSP00000512057.1:n.1038+1404_1038+1406del
ENST00000308731.8:c.1178-15_1178-13del MANE Select	ENSP00000308176.8:n.1178-15_1178-13del
ENST00000308731.7:c.1178-15_1178-13del	ENSP00000308176.7:n.1178-15_1178-13del
ENST00000372880.5:c.1038+1404_1038+1406del	ENSP00000361971.1:n.1038+1404_1038+1406del
ENST00000470329.1:n.128-15_128-13del
ENST00000618050.4:c.1178-15_1178-13del	ENSP00000479125.1:n.1178-15_1178-13del
ENST00000621635.4:c.1280-15_1280-13del	ENSP00000483570.1:n.1280-15_1280-13del
NM_000061.2:c.1178-15_1178-13del , LRG_128t1:c.1178-15_1178-13del	NP_000052.1:n.1178-15_1178-13del
NM_001287344.1:c.1280-15_1280-13del	NP_001274273.1:n.1280-15_1280-13del
NM_001287345.1:c.1038+1404_1038+1406del	NP_001274274.1:n.1038+1404_1038+1406del
NM_000061.3:c.1178-15_1178-13del MANE Select	NP_000052.1:n.1178-15_1178-13del
NM_001287344.2:c.1280-15_1280-13del	NP_001274273.1:n.1280-15_1280-13del
NM_001287345.2:c.1038+1404_1038+1406del	NP_001274274.1:n.1038+1404_1038+1406del