Canonical Allele Identifier: CA2692568

Gene: BCHE

Linked Data

• ClinVar Variation Id: 594478
• ClinVar RCV Id: RCV000729775 ; RCV001784360
• dbSNP Id: rs750309713
• ExAC: 3:165548721 AT / A
• gnomAD v2: 3-165548721-AT-A
• gnomAD v3: 3-165830933-AT-A
• gnomAD v4: 3-165830933-AT-A
• MyVariant Identifiers: chr3:g.165548722del (hg19) ; chr3:g.165830935del (hg38) ; chr3:g.165830934del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830935del , CM000665.2:g.165830935del	GRCh38
NC_000003.11:g.165548723del , CM000665.1:g.165548723del	GRCh37
NC_000003.10:g.167031417del	NCBI36
NG_009031.1:g.11532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.100del MANE Select	ENSP00000264381.3:p.Ile34LeufsTer11
ENST00000264381.7:c.100del	ENSP00000264381.3:p.Ile34LeufsTer11
ENST00000479451.5:c.107+6380del	ENSP00000418325.1:n.107+6380del
ENST00000482958.1:c.100del	ENSP00000419804.1:p.Ile34LeufsTer11
ENST00000488954.1:c.107+6380del	ENSP00000418504.1:n.107+6380del
ENST00000497011.5:c.100del	ENSP00000419505.1:p.Ile34LeufsTer11
NM_000055.2:c.100del	NP_000046.1:p.Ile34LeufsTer11
XM_005247685.1:c.223del	XP_005247742.1:p.Ile75LeufsTer11
NM_000055.3:c.100del	NP_000046.1:p.Ile34LeufsTer11
NR_137635.1:n.159+6380del
NR_137636.1:n.267del
NM_000055.4:c.100del MANE Select	NP_000046.1:p.Ile34LeufsTer11
NR_137635.2:n.110+6380del
NR_137636.2:n.218del