Canonical Allele Identifier: CA2668432399

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830236-TTCATAAAGAGATGTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830237_165830252del , CM000665.2:g.165830237_165830252del	GRCh38
NC_000003.11:g.165548025_165548040del , CM000665.1:g.165548025_165548040del	GRCh37
NC_000003.10:g.167030719_167030734del	NCBI36
NG_009031.1:g.12214_12229del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.782_797del MANE Select	ENSP00000264381.3:p.Val261GlufsTer7
ENST00000264381.7:c.782_797del	ENSP00000264381.3:p.Val261GlufsTer7
ENST00000479451.5:c.107+7062_107+7077del	ENSP00000418325.1:n.107+7062_107+7077del
ENST00000482958.1:c.782_797del	ENSP00000419804.1:p.Val261GlufsTer7
ENST00000488954.1:c.107+7062_107+7077del	ENSP00000418504.1:n.107+7062_107+7077del
ENST00000497011.5:c.782_797del	ENSP00000419505.1:p.Val261GlufsTer7
NM_000055.2:c.782_797del	NP_000046.1:p.Val261GlufsTer7
XM_005247685.1:c.905_920del	XP_005247742.1:p.Val302GlufsTer7
NM_000055.3:c.782_797del	NP_000046.1:p.Val261GlufsTer7
NR_137635.1:n.159+7062_159+7077del
NR_137636.1:n.949_964del
NM_000055.4:c.782_797del MANE Select	NP_000046.1:p.Val261GlufsTer7
NR_137635.2:n.110+7062_110+7077del
NR_137636.2:n.900_915del