Canonical Allele Identifier: CA2692361

Gene: BCHE

Linked Data

• dbSNP Id: rs767469658
• ExAC: 3:165547663 G / GA
• gnomAD v2: 3-165547663-G-GA
• gnomAD v4: 3-165829875-G-GA
• MyVariant Identifiers: chr3:g.165547663_165547664insA (hg19) ; chr3:g.165829875_165829876insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829881dup , CM000665.2:g.165829881dup	GRCh38
NC_000003.11:g.165547669dup , CM000665.1:g.165547669dup	GRCh37
NC_000003.10:g.167030363dup	NCBI36
NG_009031.1:g.12590dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1158dup MANE Select	ENSP00000264381.3:p.Pro387SerfsTer5
ENST00000264381.7:c.1158dup	ENSP00000264381.3:p.Pro387SerfsTer5
ENST00000479451.5:c.107+7438dup	ENSP00000418325.1:n.107+7438dup
ENST00000482958.1:c.1158dup	ENSP00000419804.1:p.Pro387SerfsTer5
ENST00000488954.1:c.107+7438dup	ENSP00000418504.1:n.107+7438dup
ENST00000497011.5:c.1158dup	ENSP00000419505.1:p.Pro387SerfsTer5
NM_000055.2:c.1158dup	NP_000046.1:p.Pro387SerfsTer5
XM_005247685.1:c.1281dup	XP_005247742.1:p.Pro428SerfsTer5
NM_000055.3:c.1158dup	NP_000046.1:p.Pro387SerfsTer5
NR_137635.1:n.159+7438dup
NR_137636.1:n.1325dup
NM_000055.4:c.1158dup MANE Select	NP_000046.1:p.Pro387SerfsTer5
NR_137635.2:n.110+7438dup
NR_137636.2:n.1276dup