Canonical Allele Identifier: CA87406610

Gene: BCHE

Linked Data

• dbSNP Id: rs532882325
• gnomAD v3: 3-165798689-TA-T
• gnomAD v4: 3-165798689-TA-T
• MyVariant Identifiers: chr3:g.165516478del (hg19) ; chr3:g.165798690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165798694del , CM000665.2:g.165798694del	GRCh38
NC_000003.11:g.165516482del , CM000665.1:g.165516482del	GRCh37
NC_000003.10:g.166999176del	NCBI36
NG_009031.1:g.43776del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1518-12379del MANE Select	ENSP00000264381.3:n.1518-12379del
ENST00000264381.7:c.1518-12379del	ENSP00000264381.3:n.1518-12379del
ENST00000479451.5:c.108-12379del	ENSP00000418325.1:n.108-12379del
ENST00000482958.1:c.*24-12379del	ENSP00000419804.1:n.*24-12379del
ENST00000488954.1:c.108-12379del	ENSP00000418504.1:n.108-12379del
ENST00000497011.5:c.1518-12379del	ENSP00000419505.1:n.1518-12379del
NM_000055.2:c.1518-12379del	NP_000046.1:n.1518-12379del
XM_005247685.1:c.1641-12379del	XP_005247742.1:n.1641-12379del
NM_000055.3:c.1518-12379del	NP_000046.1:n.1518-12379del
NR_137635.1:n.160-12379del
NR_137636.1:n.1685-12379del
NM_000055.4:c.1518-12379del MANE Select	NP_000046.1:n.1518-12379del
NR_137635.2:n.111-12379del
NR_137636.2:n.1636-12379del