Canonical Allele Identifier: CA122964
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 13216
ClinVar RCV Id: RCV000014106 RCV002274898
dbSNP Id: rs398124632
MyVariant Identifiers: chr3:g.165548387delinsCT (hg19) chr3:g.165830599delinsCT (hg38)
PubMed: PMID:2339692 PMID:7760318 PMID:8554068 PMID:14465122
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830599delinsCT , CM000665.2:g.165830599delinsCT GRCh38
NC_000003.11:g.165548387delinsCT , CM000665.1:g.165548387delinsCT GRCh37
NC_000003.10:g.167031081delinsCT NCBI36
NG_009031.1:g.11867delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.435delinsAG MANE Select ENSP00000264381.3:p.Phe146ValfsTer12
ENST00000264381.7:c.435delinsAG ENSP00000264381.3:p.Phe146ValfsTer12
ENST00000479451.5:c.107+6715delinsAG ENSP00000418325.1:n.107+6715delinsAG
ENST00000482958.1:c.435delinsAG ENSP00000419804.1:p.Phe146ValfsTer12
ENST00000488954.1:c.107+6715delinsAG ENSP00000418504.1:n.107+6715delinsAG
ENST00000497011.5:c.435delinsAG ENSP00000419505.1:p.Phe146ValfsTer12
NM_000055.2:c.435delinsAG NP_000046.1:p.Phe146ValfsTer12
XM_005247685.1:c.558delinsAG XP_005247742.1:p.Phe187ValfsTer12
NM_000055.3:c.435delinsAG NP_000046.1:p.Phe146ValfsTer12
NR_137635.1:n.159+6715delinsAG
NR_137636.1:n.602delinsAG
NM_000055.4:c.435delinsAG MANE Select NP_000046.1:p.Phe146ValfsTer12
NR_137635.2:n.110+6715delinsAG
NR_137636.2:n.553delinsAG
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