Canonical Allele Identifier: CA902047430

Gene: BCHE

Linked Data

• dbSNP Id: rs1400974599
• gnomAD v3: 3-165786418-G-GA
• gnomAD v4: 3-165786418-G-GA
• MyVariant Identifiers: chr3:g.165504206_165504207insA (hg19) ; chr3:g.165786418_165786419insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786424dup , CM000665.2:g.165786424dup	GRCh38
NC_000003.11:g.165504212dup , CM000665.1:g.165504212dup	GRCh37
NC_000003.10:g.166986906dup	NCBI36
NG_009031.1:g.56047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-108dup MANE Select	ENSP00000264381.3:n.1518-108dup
ENST00000264381.7:c.1518-108dup	ENSP00000264381.3:n.1518-108dup
ENST00000479451.5:c.108-108dup	ENSP00000418325.1:n.108-108dup
ENST00000482958.1:c.*24-108dup	ENSP00000419804.1:n.*24-108dup
ENST00000488954.1:c.108-108dup	ENSP00000418504.1:n.108-108dup
ENST00000497011.5:c.1518-108dup	ENSP00000419505.1:n.1518-108dup
NM_000055.2:c.1518-108dup	NP_000046.1:n.1518-108dup
XM_005247685.1:c.1641-108dup	XP_005247742.1:n.1641-108dup
NM_000055.3:c.1518-108dup	NP_000046.1:n.1518-108dup
NR_137635.1:n.160-108dup
NR_137636.1:n.1685-108dup
NM_000055.4:c.1518-108dup MANE Select	NP_000046.1:n.1518-108dup
NR_137635.2:n.111-108dup
NR_137636.2:n.1636-108dup