Canonical Allele Identifier: CA2506045404

Gene: BTK

Linked Data

• dbSNP Id: rs2147428881
• gnomAD v4: X-101357460-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357465del , CM000685.2:g.101357465del	GRCh38
NC_000023.10:g.100612453del , CM000685.1:g.100612453del	GRCh37
NC_000023.9:g.100499109del	NCBI36
NG_009616.1:g.33764del , LRG_128:g.33764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1337+48del
ENST00000488970.2:n.1335+48del
ENST00000695614.1:c.1177+48del	ENSP00000512053.1:n.1177+48del
ENST00000695615.1:c.1177+48del	ENSP00000512054.1:n.1177+48del
ENST00000695616.1:c.*1022+48del	ENSP00000512055.1:n.*1022+48del
ENST00000695617.1:c.1174+48del	ENSP00000512056.1:n.1174+48del
ENST00000695618.1:c.*926+48del	ENSP00000512058.1:n.*926+48del
ENST00000695619.1:c.*887+48del	ENSP00000512059.1:n.*887+48del
ENST00000695620.1:c.*1022+48del	ENSP00000512060.1:n.*1022+48del
ENST00000695621.1:c.1177+48del	ENSP00000512061.1:n.1177+48del
ENST00000695622.1:c.1114+48del	ENSP00000512062.1:n.1114+48del
ENST00000695623.1:c.1171+48del	ENSP00000512063.1:n.1171+48del
ENST00000695624.1:n.482+48del
ENST00000695625.1:c.1177+48del	ENSP00000512064.1:n.1177+48del
ENST00000695626.1:c.190+48del	ENSP00000512065.1:n.190+48del
ENST00000695627.1:c.190+48del	ENSP00000512066.1:n.190+48del
ENST00000695628.1:c.190+48del	ENSP00000512067.1:n.190+48del
ENST00000695629.1:c.190+48del	ENSP00000512068.1:n.190+48del
ENST00000695630.1:c.186+48del
ENST00000695631.1:c.114+849del
ENST00000695632.1:n.194+48del
ENST00000703407.1:c.1038+913del	ENSP00000512057.1:n.1038+913del
ENST00000308731.8:c.1177+48del MANE Select	ENSP00000308176.8:n.1177+48del
ENST00000308731.7:c.1177+48del	ENSP00000308176.7:n.1177+48del
ENST00000372880.5:c.1038+913del	ENSP00000361971.1:n.1038+913del
ENST00000470329.1:n.127+48del
ENST00000618050.4:c.1177+48del	ENSP00000479125.1:n.1177+48del
ENST00000621635.4:c.1279+48del	ENSP00000483570.1:n.1279+48del
NM_000061.2:c.1177+48del , LRG_128t1:c.1177+48del	NP_000052.1:n.1177+48del
NM_001287344.1:c.1279+48del	NP_001274273.1:n.1279+48del
NM_001287345.1:c.1038+913del	NP_001274274.1:n.1038+913del
NM_000061.3:c.1177+48del MANE Select	NP_000052.1:n.1177+48del
NM_001287344.2:c.1279+48del	NP_001274273.1:n.1279+48del
NM_001287345.2:c.1038+913del	NP_001274274.1:n.1038+913del