Canonical Allele Identifier: CA16040925

Gene: BCHE

Linked Data

• ClinVar Variation Id: 370709
• ClinVar RCV Id: RCV000410237
• dbSNP Id: rs1057516707
• MyVariant Identifiers: chr3:g.165548329del (hg19) ; chr3:g.165830541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830541del , CM000665.2:g.165830541del	GRCh38
NC_000003.11:g.165548329del , CM000665.1:g.165548329del	GRCh37
NC_000003.10:g.167031023del	NCBI36
NG_009031.1:g.11925del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.493del MANE Select	ENSP00000264381.3:p.Glu165LysfsTer5
ENST00000264381.7:c.493del	ENSP00000264381.3:p.Glu165LysfsTer5
ENST00000479451.5:c.107+6773del	ENSP00000418325.1:n.107+6773del
ENST00000482958.1:c.493del	ENSP00000419804.1:p.Glu165LysfsTer5
ENST00000488954.1:c.107+6773del	ENSP00000418504.1:n.107+6773del
ENST00000497011.5:c.493del	ENSP00000419505.1:p.Glu165LysfsTer5
NM_000055.2:c.493del	NP_000046.1:p.Glu165LysfsTer5
XM_005247685.1:c.616del	XP_005247742.1:p.Glu206LysfsTer5
NM_000055.3:c.493del	NP_000046.1:p.Glu165LysfsTer5
NR_137635.1:n.159+6773del
NR_137636.1:n.660del
NM_000055.4:c.493del MANE Select	NP_000046.1:p.Glu165LysfsTer5
NR_137635.2:n.110+6773del
NR_137636.2:n.611del