Canonical Allele Identifier: CA547744227

Gene: BCHE

Linked Data

• dbSNP Id: rs1213877645
• gnomAD v2: 3-165491185-ACTTT-A
• gnomAD v3: 3-165773397-ACTTT-A
• gnomAD v4: 3-165773397-ACTTT-A
• MyVariant Identifiers: chr3:g.165491186_165491189del (hg19) ; chr3:g.165773398_165773401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773405_165773408del , CM000665.2:g.165773405_165773408del	GRCh38
NC_000003.11:g.165491193_165491196del , CM000665.1:g.165491193_165491196del	GRCh37
NC_000003.10:g.166973887_166973890del	NCBI36
NG_009031.1:g.69065_69068del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1790_1793del MANE Select	ENSP00000264381.3:p.Glu597ValfsTer7
ENST00000264381.7:c.1790_1793del	ENSP00000264381.3:p.Glu597ValfsTer7
ENST00000479451.5:c.380_383del	ENSP00000418325.1:p.Glu127ValfsTer7
ENST00000482958.1:c.*296_*299del	ENSP00000419804.1:n.*296_*299del
ENST00000497011.5:c.*180_*183del	ENSP00000419505.1:n.*180_*183del
NM_000055.2:c.1790_1793del	NP_000046.1:p.Glu597ValfsTer7
XM_005247685.1:c.1913_1916del	XP_005247742.1:p.Glu638ValfsTer7
NM_000055.3:c.1790_1793del	NP_000046.1:p.Glu597ValfsTer7
NR_137635.1:n.432_435del
NR_137636.1:n.2036_2039del
NM_000055.4:c.1790_1793del MANE Select	NP_000046.1:p.Glu597ValfsTer7
NR_137635.2:n.383_386del
NR_137636.2:n.1987_1990del