Canonical Allele Identifier: CA917057088

Gene: BCHE

Linked Data

• dbSNP Id: rs1560023004

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830145del , CM000665.2:g.165830145del	GRCh38
NC_000003.11:g.165547933del , CM000665.1:g.165547933del	GRCh37
NC_000003.10:g.167030627del	NCBI36
NG_009031.1:g.12324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.892del MANE Select	ENSP00000264381.3:p.Gln298LysfsTer5
ENST00000264381.7:c.892del	ENSP00000264381.3:p.Gln298LysfsTer5
ENST00000479451.5:c.107+7172del	ENSP00000418325.1:n.107+7172del
ENST00000482958.1:c.892del	ENSP00000419804.1:p.Gln298LysfsTer5
ENST00000488954.1:c.107+7172del	ENSP00000418504.1:n.107+7172del
ENST00000497011.5:c.892del	ENSP00000419505.1:p.Gln298LysfsTer5
NM_000055.2:c.892del	NP_000046.1:p.Gln298LysfsTer5
XM_005247685.1:c.1015del	XP_005247742.1:p.Gln339LysfsTer5
NM_000055.3:c.892del	NP_000046.1:p.Gln298LysfsTer5
NR_137635.1:n.159+7172del
NR_137636.1:n.1059del
NM_000055.4:c.892del MANE Select	NP_000046.1:p.Gln298LysfsTer5
NR_137635.2:n.110+7172del
NR_137636.2:n.1010del