Canonical Allele Identifier: CA2694291835

Gene: BTK

Linked Data

• gnomAD v4: X-101357412-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357413_101357414del , CM000685.2:g.101357413_101357414del	GRCh38
NC_000023.10:g.100612401_100612402del , CM000685.1:g.100612401_100612402del	GRCh37
NC_000023.9:g.100499057_100499058del	NCBI36
NG_009616.1:g.33811_33812del , LRG_128:g.33811_33812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1337+95_1337+96del
ENST00000488970.2:n.1335+95_1335+96del
ENST00000695614.1:c.1177+95_1177+96del	ENSP00000512053.1:n.1177+95_1177+96del
ENST00000695615.1:c.1177+95_1177+96del	ENSP00000512054.1:n.1177+95_1177+96del
ENST00000695616.1:c.*1022+95_*1022+96del	ENSP00000512055.1:n.*1022+95_*1022+96del
ENST00000695617.1:c.1174+95_1174+96del	ENSP00000512056.1:n.1174+95_1174+96del
ENST00000695618.1:c.*926+95_*926+96del	ENSP00000512058.1:n.*926+95_*926+96del
ENST00000695619.1:c.*887+95_*887+96del	ENSP00000512059.1:n.*887+95_*887+96del
ENST00000695620.1:c.*1022+95_*1022+96del	ENSP00000512060.1:n.*1022+95_*1022+96del
ENST00000695621.1:c.1177+95_1177+96del	ENSP00000512061.1:n.1177+95_1177+96del
ENST00000695622.1:c.1114+95_1114+96del	ENSP00000512062.1:n.1114+95_1114+96del
ENST00000695623.1:c.1171+95_1171+96del	ENSP00000512063.1:n.1171+95_1171+96del
ENST00000695624.1:n.482+95_482+96del
ENST00000695625.1:c.1177+95_1177+96del	ENSP00000512064.1:n.1177+95_1177+96del
ENST00000695626.1:c.190+95_190+96del	ENSP00000512065.1:n.190+95_190+96del
ENST00000695627.1:c.190+95_190+96del	ENSP00000512066.1:n.190+95_190+96del
ENST00000695628.1:c.190+95_190+96del	ENSP00000512067.1:n.190+95_190+96del
ENST00000695629.1:c.190+95_190+96del	ENSP00000512068.1:n.190+95_190+96del
ENST00000695630.1:c.186+95_186+96del
ENST00000695631.1:c.114+896_114+897del
ENST00000695632.1:n.194+95_194+96del
ENST00000703407.1:c.1038+960_1038+961del	ENSP00000512057.1:n.1038+960_1038+961del
ENST00000308731.8:c.1177+95_1177+96del MANE Select	ENSP00000308176.8:n.1177+95_1177+96del
ENST00000308731.7:c.1177+95_1177+96del	ENSP00000308176.7:n.1177+95_1177+96del
ENST00000372880.5:c.1038+960_1038+961del	ENSP00000361971.1:n.1038+960_1038+961del
ENST00000470329.1:n.127+95_127+96del
ENST00000618050.4:c.1177+95_1177+96del	ENSP00000479125.1:n.1177+95_1177+96del
ENST00000621635.4:c.1279+95_1279+96del	ENSP00000483570.1:n.1279+95_1279+96del
NM_000061.2:c.1177+95_1177+96del , LRG_128t1:c.1177+95_1177+96del	NP_000052.1:n.1177+95_1177+96del
NM_001287344.1:c.1279+95_1279+96del	NP_001274273.1:n.1279+95_1279+96del
NM_001287345.1:c.1038+960_1038+961del	NP_001274274.1:n.1038+960_1038+961del
NM_000061.3:c.1177+95_1177+96del MANE Select	NP_000052.1:n.1177+95_1177+96del
NM_001287344.2:c.1279+95_1279+96del	NP_001274273.1:n.1279+95_1279+96del
NM_001287345.2:c.1038+960_1038+961del	NP_001274274.1:n.1038+960_1038+961del