Canonical Allele Identifier: CA547857063

Gene: BCHE

Linked Data

• dbSNP Id: rs1175482750
• gnomAD v2: 3-165547595-TC-T
• gnomAD v4: 3-165829807-TC-T
• MyVariant Identifiers: chr3:g.165547596del (hg19) ; chr3:g.165829808del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829808del , CM000665.2:g.165829808del	GRCh38
NC_000003.11:g.165547596del , CM000665.1:g.165547596del	GRCh37
NC_000003.10:g.167030290del	NCBI36
NG_009031.1:g.12658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1226del MANE Select	ENSP00000264381.3:p.Arg409AsnfsTer?
ENST00000264381.7:c.1226del	ENSP00000264381.3:p.Arg409AsnfsTer?
ENST00000479451.5:c.107+7506del	ENSP00000418325.1:n.107+7506del
ENST00000482958.1:c.1226del	ENSP00000419804.1:p.Arg409AsnfsTer?
ENST00000488954.1:c.107+7506del	ENSP00000418504.1:n.107+7506del
ENST00000497011.5:c.1226del	ENSP00000419505.1:p.Arg409AsnfsTer?
NM_000055.2:c.1226del	NP_000046.1:p.Arg409AsnfsTer?
XM_005247685.1:c.1349del	XP_005247742.1:p.Arg450AsnfsTer?
NM_000055.3:c.1226del	NP_000046.1:p.Arg409AsnfsTer?
NR_137635.1:n.159+7506del
NR_137636.1:n.1393del
NM_000055.4:c.1226del MANE Select	NP_000046.1:p.Arg409AsnfsTer?
NR_137635.2:n.110+7506del
NR_137636.2:n.1344del