Canonical Allele Identifier: CA2577772739

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830829del , CM000665.2:g.165830829del	GRCh38
NC_000003.11:g.165548617del , CM000665.1:g.165548617del	GRCh37
NC_000003.10:g.167031311del	NCBI36
NG_009031.1:g.11637del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.205del MANE Select	ENSP00000264381.3:p.Leu69PhefsTer9
ENST00000264381.7:c.205del	ENSP00000264381.3:p.Leu69PhefsTer9
ENST00000479451.5:c.107+6485del	ENSP00000418325.1:n.107+6485del
ENST00000482958.1:c.205del	ENSP00000419804.1:p.Leu69PhefsTer9
ENST00000488954.1:c.107+6485del	ENSP00000418504.1:n.107+6485del
ENST00000497011.5:c.205del	ENSP00000419505.1:p.Leu69PhefsTer9
NM_000055.2:c.205del	NP_000046.1:p.Leu69PhefsTer9
XM_005247685.1:c.328del	XP_005247742.1:p.Leu110PhefsTer9
NM_000055.3:c.205del	NP_000046.1:p.Leu69PhefsTer9
NR_137635.1:n.159+6485del
NR_137636.1:n.372del
NM_000055.4:c.205del MANE Select	NP_000046.1:p.Leu69PhefsTer9
NR_137635.2:n.110+6485del
NR_137636.2:n.323del