Canonical Allele Identifier: CA1417711872

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786366_165786368delinsAAG , CM000665.2:g.165786366_165786368delinsAAG	GRCh38
NC_000003.11:g.165504154_165504156delinsAAG , CM000665.1:g.165504154_165504156delinsAAG	GRCh37
NC_000003.10:g.166986848_166986850delinsAAG	NCBI36
NG_009031.1:g.56098_56100delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-57_1518-55delinsCTT MANE Select	ENSP00000264381.3:n.1518-57_1518-55delinsCTT
ENST00000264381.7:c.1518-57_1518-55delinsCTT	ENSP00000264381.3:n.1518-57_1518-55delinsCTT
ENST00000479451.5:c.108-57_108-55delinsCTT	ENSP00000418325.1:n.108-57_108-55delinsCTT
ENST00000482958.1:c.*24-57_*24-55delinsCTT	ENSP00000419804.1:n.*24-57_*24-55delinsCTT
ENST00000488954.1:c.108-57_108-55delinsCTT	ENSP00000418504.1:n.108-57_108-55delinsCTT
ENST00000497011.5:c.1518-57_1518-55delinsCTT	ENSP00000419505.1:n.1518-57_1518-55delinsCTT
NM_000055.2:c.1518-57_1518-55delinsCTT	NP_000046.1:n.1518-57_1518-55delinsCTT
XM_005247685.1:c.1641-57_1641-55delinsCTT	XP_005247742.1:n.1641-57_1641-55delinsCTT
NM_000055.3:c.1518-57_1518-55delinsCTT	NP_000046.1:n.1518-57_1518-55delinsCTT
NR_137635.1:n.160-57_160-55delinsCTT
NR_137636.1:n.1685-57_1685-55delinsCTT
NM_000055.4:c.1518-57_1518-55delinsCTT MANE Select	NP_000046.1:n.1518-57_1518-55delinsCTT
NR_137635.2:n.111-57_111-55delinsCTT
NR_137636.2:n.1636-57_1636-55delinsCTT