Canonical Allele Identifier: CA2694291813

Gene: BTK

Linked Data

• gnomAD v4: X-101357400-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357400_101357401insTA , CM000685.2:g.101357400_101357401insTA	GRCh38
NC_000023.10:g.100612388_100612389insTA , CM000685.1:g.100612388_100612389insTA	GRCh37
NC_000023.9:g.100499044_100499045insTA	NCBI36
NG_009616.1:g.33824_33825insTA , LRG_128:g.33824_33825insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1337+108_1337+109insTA
ENST00000488970.2:n.1335+108_1335+109insTA
ENST00000695614.1:c.1177+108_1177+109insTA	ENSP00000512053.1:n.1177+108_1177+109insTA
ENST00000695615.1:c.1177+108_1177+109insTA	ENSP00000512054.1:n.1177+108_1177+109insTA
ENST00000695616.1:c.*1022+108_*1022+109insTA	ENSP00000512055.1:n.*1022+108_*1022+109insTA
ENST00000695617.1:c.1174+108_1174+109insTA	ENSP00000512056.1:n.1174+108_1174+109insTA
ENST00000695618.1:c.*926+108_*926+109insTA	ENSP00000512058.1:n.*926+108_*926+109insTA
ENST00000695619.1:c.*887+108_*887+109insTA	ENSP00000512059.1:n.*887+108_*887+109insTA
ENST00000695620.1:c.*1022+108_*1022+109insTA	ENSP00000512060.1:n.*1022+108_*1022+109insTA
ENST00000695621.1:c.1177+108_1177+109insTA	ENSP00000512061.1:n.1177+108_1177+109insTA
ENST00000695622.1:c.1114+108_1114+109insTA	ENSP00000512062.1:n.1114+108_1114+109insTA
ENST00000695623.1:c.1171+108_1171+109insTA	ENSP00000512063.1:n.1171+108_1171+109insTA
ENST00000695624.1:n.482+108_482+109insTA
ENST00000695625.1:c.1177+108_1177+109insTA	ENSP00000512064.1:n.1177+108_1177+109insTA
ENST00000695626.1:c.190+108_190+109insTA	ENSP00000512065.1:n.190+108_190+109insTA
ENST00000695627.1:c.190+108_190+109insTA	ENSP00000512066.1:n.190+108_190+109insTA
ENST00000695628.1:c.190+108_190+109insTA	ENSP00000512067.1:n.190+108_190+109insTA
ENST00000695629.1:c.190+108_190+109insTA	ENSP00000512068.1:n.190+108_190+109insTA
ENST00000695630.1:c.186+108_186+109insTA
ENST00000695631.1:c.114+909_114+910insTA
ENST00000695632.1:n.194+108_194+109insTA
ENST00000703407.1:c.1038+973_1038+974insTA	ENSP00000512057.1:n.1038+973_1038+974insTA
ENST00000308731.8:c.1177+108_1177+109insTA MANE Select	ENSP00000308176.8:n.1177+108_1177+109insTA
ENST00000308731.7:c.1177+108_1177+109insTA	ENSP00000308176.7:n.1177+108_1177+109insTA
ENST00000372880.5:c.1038+973_1038+974insTA	ENSP00000361971.1:n.1038+973_1038+974insTA
ENST00000470329.1:n.127+108_127+109insTA
ENST00000618050.4:c.1177+108_1177+109insTA	ENSP00000479125.1:n.1177+108_1177+109insTA
ENST00000621635.4:c.1279+108_1279+109insTA	ENSP00000483570.1:n.1279+108_1279+109insTA
NM_000061.2:c.1177+108_1177+109insTA , LRG_128t1:c.1177+108_1177+109insTA	NP_000052.1:n.1177+108_1177+109insTA
NM_001287344.1:c.1279+108_1279+109insTA	NP_001274273.1:n.1279+108_1279+109insTA
NM_001287345.1:c.1038+973_1038+974insTA	NP_001274274.1:n.1038+973_1038+974insTA
NM_000061.3:c.1177+108_1177+109insTA MANE Select	NP_000052.1:n.1177+108_1177+109insTA
NM_001287344.2:c.1279+108_1279+109insTA	NP_001274273.1:n.1279+108_1279+109insTA
NM_001287345.2:c.1038+973_1038+974insTA	NP_001274274.1:n.1038+973_1038+974insTA