Canonical Allele Identifier: CA547857064

Gene: BCHE

Linked Data

• ClinVar Variation Id: 1323972
• ClinVar RCV Id: RCV001780677
• dbSNP Id: rs767469658
• gnomAD v2: 3-165547663-GA-G
• gnomAD v3: 3-165829875-GA-G
• gnomAD v4: 3-165829875-GA-G
• COSMIC: COSM5059475
• MyVariant Identifiers: chr3:g.165547664del (hg19) ; chr3:g.165829876del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1158del MANE Select	ENSP00000264381.3:p.Pro387GlnfsTer3
ENST00000264381.7:c.1158del	ENSP00000264381.3:p.Pro387GlnfsTer3
ENST00000479451.5:c.107+7438del	ENSP00000418325.1:n.107+7438del
ENST00000482958.1:c.1158del	ENSP00000419804.1:p.Pro387GlnfsTer3
ENST00000488954.1:c.107+7438del	ENSP00000418504.1:n.107+7438del
ENST00000497011.5:c.1158del	ENSP00000419505.1:p.Pro387GlnfsTer3
NM_000055.2:c.1158del	NP_000046.1:p.Pro387GlnfsTer3
XM_005247685.1:c.1281del	XP_005247742.1:p.Pro428GlnfsTer3
NM_000055.3:c.1158del	NP_000046.1:p.Pro387GlnfsTer3
NR_137635.1:n.159+7438del
NR_137636.1:n.1325del
NM_000055.4:c.1158del MANE Select	NP_000046.1:p.Pro387GlnfsTer3
NR_137635.2:n.110+7438del
NR_137636.2:n.1276del