Canonical Allele Identifier: CA2668431700

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830055-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830059del , CM000665.2:g.165830059del	GRCh38
NC_000003.11:g.165547847del , CM000665.1:g.165547847del	GRCh37
NC_000003.10:g.167030541del	NCBI36
NG_009031.1:g.12410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.978del MANE Select	ENSP00000264381.3:p.Leu327SerfsTer?
ENST00000264381.7:c.978del	ENSP00000264381.3:p.Leu327SerfsTer?
ENST00000479451.5:c.107+7258del	ENSP00000418325.1:n.107+7258del
ENST00000482958.1:c.978del	ENSP00000419804.1:p.Leu327SerfsTer?
ENST00000488954.1:c.107+7258del	ENSP00000418504.1:n.107+7258del
ENST00000497011.5:c.978del	ENSP00000419505.1:p.Leu327SerfsTer?
NM_000055.2:c.978del	NP_000046.1:p.Leu327SerfsTer?
XM_005247685.1:c.1101del	XP_005247742.1:p.Leu368SerfsTer?
NM_000055.3:c.978del	NP_000046.1:p.Leu327SerfsTer?
NR_137635.1:n.159+7258del
NR_137636.1:n.1145del
NM_000055.4:c.978del MANE Select	NP_000046.1:p.Leu327SerfsTer?
NR_137635.2:n.110+7258del
NR_137636.2:n.1096del