Canonical Allele Identifier: CA2668431675

Gene: BCHE

Linked Data

• gnomAD v4: 3-165829653-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829655del , CM000665.2:g.165829655del	GRCh38
NC_000003.11:g.165547443del , CM000665.1:g.165547443del	GRCh37
NC_000003.10:g.167030137del	NCBI36
NG_009031.1:g.12812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1380del MANE Select	ENSP00000264381.3:p.Glu460AspfsTer5
ENST00000264381.7:c.1380del	ENSP00000264381.3:p.Glu460AspfsTer5
ENST00000479451.5:c.107+7660del	ENSP00000418325.1:n.107+7660del
ENST00000482958.1:c.1380del	ENSP00000419804.1:p.Glu460AspfsTer5
ENST00000488954.1:c.107+7660del	ENSP00000418504.1:n.107+7660del
ENST00000497011.5:c.1380del	ENSP00000419505.1:p.Glu460AspfsTer5
NM_000055.2:c.1380del	NP_000046.1:p.Glu460AspfsTer5
XM_005247685.1:c.1503del	XP_005247742.1:p.Glu501AspfsTer5
NM_000055.3:c.1380del	NP_000046.1:p.Glu460AspfsTer5
NR_137635.1:n.159+7660del
NR_137636.1:n.1547del
NM_000055.4:c.1380del MANE Select	NP_000046.1:p.Glu460AspfsTer5
NR_137635.2:n.110+7660del
NR_137636.2:n.1498del