Canonical Allele Identifier: CA87410317

Gene: BCHE

Linked Data

• dbSNP Id: rs35979453
• MyVariant Identifiers: chr3:g.165547625del (hg19) ; chr3:g.165829837del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829841del , CM000665.2:g.165829841del	GRCh38
NC_000003.11:g.165547629del , CM000665.1:g.165547629del	GRCh37
NC_000003.10:g.167030323del	NCBI36
NG_009031.1:g.12629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1197del MANE Select	ENSP00000264381.3:p.His400IlefsTer6
ENST00000264381.7:c.1197del	ENSP00000264381.3:p.His400IlefsTer6
ENST00000479451.5:c.107+7477del	ENSP00000418325.1:n.107+7477del
ENST00000482958.1:c.1197del	ENSP00000419804.1:p.His400IlefsTer6
ENST00000488954.1:c.107+7477del	ENSP00000418504.1:n.107+7477del
ENST00000497011.5:c.1197del	ENSP00000419505.1:p.His400IlefsTer6
NM_000055.2:c.1197del	NP_000046.1:p.His400IlefsTer6
XM_005247685.1:c.1320del	XP_005247742.1:p.His441IlefsTer6
NM_000055.3:c.1197del	NP_000046.1:p.His400IlefsTer6
NR_137635.1:n.159+7477del
NR_137636.1:n.1364del
NM_000055.4:c.1197del MANE Select	NP_000046.1:p.His400IlefsTer6
NR_137635.2:n.110+7477del
NR_137636.2:n.1315del