Canonical Allele Identifier: CA1417759358

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829690_165829693delinsATAG , CM000665.2:g.165829690_165829693delinsATAG	GRCh38
NC_000003.11:g.165547478_165547481delinsATAG , CM000665.1:g.165547478_165547481delinsATAG	GRCh37
NC_000003.10:g.167030172_167030175delinsATAG	NCBI36
NG_009031.1:g.12773_12776delinsCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1341_1344delinsCTAT MANE Select	ENSP00000264381.3:p.Tyr447=
ENST00000264381.7:c.1341_1344delinsCTAT	ENSP00000264381.3:p.Tyr447=
ENST00000479451.5:c.107+7621_107+7624delinsCTAT	ENSP00000418325.1:n.107+7621_107+7624delinsCTAT
ENST00000482958.1:c.1341_1344delinsCTAT	ENSP00000419804.1:p.Tyr447=
ENST00000488954.1:c.107+7621_107+7624delinsCTAT	ENSP00000418504.1:n.107+7621_107+7624delinsCTAT
ENST00000497011.5:c.1341_1344delinsCTAT	ENSP00000419505.1:p.Tyr447=
NM_000055.2:c.1341_1344delinsCTAT	NP_000046.1:p.Tyr447=
XM_005247685.1:c.1464_1467delinsCTAT	XP_005247742.1:p.Tyr488=
NM_000055.3:c.1341_1344delinsCTAT	NP_000046.1:p.Tyr447=
NR_137635.1:n.159+7621_159+7624delinsCTAT
NR_137636.1:n.1508_1511delinsCTAT
NM_000055.4:c.1341_1344delinsCTAT MANE Select	NP_000046.1:p.Tyr447=
NR_137635.2:n.110+7621_110+7624delinsCTAT
NR_137636.2:n.1459_1462delinsCTAT