Canonical Allele Identifier: CA2694291838

Gene: BTK

Linked Data

• gnomAD v4: X-101357413-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357415_101357416del , CM000685.2:g.101357415_101357416del	GRCh38
NC_000023.10:g.100612403_100612404del , CM000685.1:g.100612403_100612404del	GRCh37
NC_000023.9:g.100499059_100499060del	NCBI36
NG_009616.1:g.33810_33811del , LRG_128:g.33810_33811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1337+94_1337+95del
ENST00000488970.2:n.1335+94_1335+95del
ENST00000695614.1:c.1177+94_1177+95del	ENSP00000512053.1:n.1177+94_1177+95del
ENST00000695615.1:c.1177+94_1177+95del	ENSP00000512054.1:n.1177+94_1177+95del
ENST00000695616.1:c.*1022+94_*1022+95del	ENSP00000512055.1:n.*1022+94_*1022+95del
ENST00000695617.1:c.1174+94_1174+95del	ENSP00000512056.1:n.1174+94_1174+95del
ENST00000695618.1:c.*926+94_*926+95del	ENSP00000512058.1:n.*926+94_*926+95del
ENST00000695619.1:c.*887+94_*887+95del	ENSP00000512059.1:n.*887+94_*887+95del
ENST00000695620.1:c.*1022+94_*1022+95del	ENSP00000512060.1:n.*1022+94_*1022+95del
ENST00000695621.1:c.1177+94_1177+95del	ENSP00000512061.1:n.1177+94_1177+95del
ENST00000695622.1:c.1114+94_1114+95del	ENSP00000512062.1:n.1114+94_1114+95del
ENST00000695623.1:c.1171+94_1171+95del	ENSP00000512063.1:n.1171+94_1171+95del
ENST00000695624.1:n.482+94_482+95del
ENST00000695625.1:c.1177+94_1177+95del	ENSP00000512064.1:n.1177+94_1177+95del
ENST00000695626.1:c.190+94_190+95del	ENSP00000512065.1:n.190+94_190+95del
ENST00000695627.1:c.190+94_190+95del	ENSP00000512066.1:n.190+94_190+95del
ENST00000695628.1:c.190+94_190+95del	ENSP00000512067.1:n.190+94_190+95del
ENST00000695629.1:c.190+94_190+95del	ENSP00000512068.1:n.190+94_190+95del
ENST00000695630.1:c.186+94_186+95del
ENST00000695631.1:c.114+895_114+896del
ENST00000695632.1:n.194+94_194+95del
ENST00000703407.1:c.1038+959_1038+960del	ENSP00000512057.1:n.1038+959_1038+960del
ENST00000308731.8:c.1177+94_1177+95del MANE Select	ENSP00000308176.8:n.1177+94_1177+95del
ENST00000308731.7:c.1177+94_1177+95del	ENSP00000308176.7:n.1177+94_1177+95del
ENST00000372880.5:c.1038+959_1038+960del	ENSP00000361971.1:n.1038+959_1038+960del
ENST00000470329.1:n.127+94_127+95del
ENST00000618050.4:c.1177+94_1177+95del	ENSP00000479125.1:n.1177+94_1177+95del
ENST00000621635.4:c.1279+94_1279+95del	ENSP00000483570.1:n.1279+94_1279+95del
NM_000061.2:c.1177+94_1177+95del , LRG_128t1:c.1177+94_1177+95del	NP_000052.1:n.1177+94_1177+95del
NM_001287344.1:c.1279+94_1279+95del	NP_001274273.1:n.1279+94_1279+95del
NM_001287345.1:c.1038+959_1038+960del	NP_001274274.1:n.1038+959_1038+960del
NM_000061.3:c.1177+94_1177+95del MANE Select	NP_000052.1:n.1177+94_1177+95del
NM_001287344.2:c.1279+94_1279+95del	NP_001274273.1:n.1279+94_1279+95del
NM_001287345.2:c.1038+959_1038+960del	NP_001274274.1:n.1038+959_1038+960del