Canonical Allele Identifier: CA547857073

Gene: BCHE

Linked Data

• dbSNP Id: rs1249632788
• gnomAD v2: 3-165504007-CT-C
• MyVariant Identifiers: chr3:g.165504008del (hg19) ; chr3:g.165786220del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786221del , CM000665.2:g.165786221del	GRCh38
NC_000003.11:g.165504009del , CM000665.1:g.165504009del	GRCh37
NC_000003.10:g.166986703del	NCBI36
NG_009031.1:g.56246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1609del MANE Select	ENSP00000264381.3:p.Arg537GlufsTer2
ENST00000264381.7:c.1609del	ENSP00000264381.3:p.Arg537GlufsTer2
ENST00000479451.5:c.199del	ENSP00000418325.1:p.Arg67GlufsTer2
ENST00000482958.1:c.*115del	ENSP00000419804.1:n.*115del
ENST00000488954.1:c.199del	ENSP00000418504.1:p.Arg67GlufsTer2
ENST00000497011.5:c.1609del	ENSP00000419505.1:p.Arg537GlufsTer2
NM_000055.2:c.1609del	NP_000046.1:p.Arg537GlufsTer2
XM_005247685.1:c.1732del	XP_005247742.1:p.Arg578GlufsTer2
NM_000055.3:c.1609del	NP_000046.1:p.Arg537GlufsTer2
NR_137635.1:n.251del
NR_137636.1:n.1776del
NM_000055.4:c.1609del MANE Select	NP_000046.1:p.Arg537GlufsTer2
NR_137635.2:n.202del
NR_137636.2:n.1727del