Canonical Allele Identifier: CA2668431701

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830059-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830060del , CM000665.2:g.165830060del	GRCh38
NC_000003.11:g.165547848del , CM000665.1:g.165547848del	GRCh37
NC_000003.10:g.167030542del	NCBI36
NG_009031.1:g.12406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.974del MANE Select	ENSP00000264381.3:p.Asp325ValfsTer?
ENST00000264381.7:c.974del	ENSP00000264381.3:p.Asp325ValfsTer?
ENST00000479451.5:c.107+7254del	ENSP00000418325.1:n.107+7254del
ENST00000482958.1:c.974del	ENSP00000419804.1:p.Asp325ValfsTer?
ENST00000488954.1:c.107+7254del	ENSP00000418504.1:n.107+7254del
ENST00000497011.5:c.974del	ENSP00000419505.1:p.Asp325ValfsTer?
NM_000055.2:c.974del	NP_000046.1:p.Asp325ValfsTer?
XM_005247685.1:c.1097del	XP_005247742.1:p.Asp366ValfsTer?
NM_000055.3:c.974del	NP_000046.1:p.Asp325ValfsTer?
NR_137635.1:n.159+7254del
NR_137636.1:n.1141del
NM_000055.4:c.974del MANE Select	NP_000046.1:p.Asp325ValfsTer?
NR_137635.2:n.110+7254del
NR_137636.2:n.1092del