Canonical Allele Identifier: CA2692183
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 1878252
ClinVar RCV Id: RCV002510305
dbSNP Id: rs535319263
ExAC: 3:165491176 AC / A
gnomAD v2: 3-165491176-AC-A
gnomAD v3: 3-165773388-AC-A
gnomAD v4: 3-165773388-AC-A
MyVariant Identifiers: chr3:g.165491177del (hg19) chr3:g.165773389del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165773391del , CM000665.2:g.165773391del GRCh38
NC_000003.11:g.165491179del , CM000665.1:g.165491179del GRCh37
NC_000003.10:g.166973873del NCBI36
NG_009031.1:g.69077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1802del MANE Select ENSP00000264381.3:p.Gly601ValfsTer4
ENST00000264381.7:c.1802del ENSP00000264381.3:p.Gly601ValfsTer4
ENST00000479451.5:c.392del ENSP00000418325.1:p.Gly131ValfsTer4
ENST00000482958.1:c.*308del ENSP00000419804.1:n.*308del
ENST00000497011.5:c.*192del ENSP00000419505.1:n.*192del
NM_000055.2:c.1802del NP_000046.1:p.Gly601ValfsTer4
XM_005247685.1:c.1925del XP_005247742.1:p.Gly642ValfsTer4
NM_000055.3:c.1802del NP_000046.1:p.Gly601ValfsTer4
NR_137635.1:n.444del
NR_137636.1:n.2048del
NM_000055.4:c.1802del MANE Select NP_000046.1:p.Gly601ValfsTer4
NR_137635.2:n.395del
NR_137636.2:n.1999del
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